SI c.1498G>A ;(p.D500N)

Variant ID: 3-164772996-C-T

NM_001041.3(SI):c.1498G>A;(p.D500N)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Hedgehog-interacting protein acts in the habenula to regulate nicotine intake.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Caligiuri, Stephanie P B SPB; Howe, William M WM; Wills, Lauren L; Smith, Alexander C W ACW; Lei, Ye Y; Bali, Purva P; Heyer, Mary P MP; Moen, Janna K JK; Ables, Jessica L JL; Elayouby, Karim S KS; Williams, Maya M; Fillinger, Clementine C; Oketokoun, Zainab Z; Lehmann, Vanessa E VE; DiFeliceantonio, Alexandra G AG; Johnson, Paul M PM; Beaumont, Kristin K; Sebra, Robert P RP; Ibanez-Tallon, Ines I; Kenny, Paul J PJ
Publication Date: 2022-11-15

Variant appearance in text: SI: D500N
PubMed Link: 36346845
Variant Present in the following documents:
  • pnas.202209870.pdf
View BVdb publication page



Hedgehog pathway activation through nanobody-mediated conformational blockade of the Patched sterol conduit.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Zhang, Yunxiao Y; Lu, Wan-Jin WJ; Bulkley, David P DP; Liang, Jiahao J; Ralko, Arthur A; Han, Shuo S; Roberts, Kelsey J KJ; Li, Anping A; Cho, Wonhwa W; Cheng, Yifan Y; Manglik, Aashish A; Beachy, Philip A PA
Publication Date: 2020-11-17

Variant appearance in text: SI: D500N
PubMed Link: 33139559
Variant Present in the following documents:
  • Main text
View BVdb publication page



Angiosarcoma heterogeneity and potential therapeutic vulnerability to immune checkpoint blockade: insights from genomic sequencing.

Genome Medicine
Boichard, Amélie A; Wagner, Michael J MJ; Kurzrock, Razelle R
Publication Date: 2020-07-09

Variant appearance in text: SI: 1498G>A; Asp500Asn
PubMed Link: 32646514
Variant Present in the following documents:
  • 13073_2020_753_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Split Hand Syndrome in a Family with GARS-Associated Axonal Neuropathy.

Journal Of Clinical Neurology (Seoul, Korea)
Kang, You Ri YR; Kang, Kyung Wook KW; Nam, Tai Seung TS; Im, Jae Hwan JH; Kim, Sang Hoon SH; Lee, Seung Jin SJ
Publication Date: 2019-10

Variant appearance in text: SI: Asp500Asn
PubMed Link: 31591847
Variant Present in the following documents:
  • Main text
  • jcn-15-566.pdf
View BVdb publication page



Rapid, direct activity assays for Smoothened reveal Hedgehog pathway regulation by membrane cholesterol and extracellular sodium.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Myers, Benjamin R BR; Neahring, Lila L; Zhang, Yunxiao Y; Roberts, Kelsey J KJ; Beachy, Philip A PA
Publication Date: 2017-12-26

Variant appearance in text: SI: D500N
PubMed Link: 29229834
Variant Present in the following documents:
  • Main text
View BVdb publication page



A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget
Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2014-05-30

Variant appearance in text: SI: D500N
PubMed Link: 24913145
Variant Present in the following documents:
  • oncotarget-05-2912-s003.xlsx, sheet 1
View BVdb publication page