HP c.1006G>A ;(p.E336K)

Variant ID: 16-72094574-G-A

NM_005143.3(HP):c.1006G>A;(p.E336K)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.

Cell Stem Cell
Merkle, Florian T FT; Ghosh, Sulagna S; Genovese, Giulio G; Handsaker, Robert E RE; Kashin, Seva S; Meyer, Daniel D; Karczewski, Konrad J KJ; O'Dushlaine, Colm C; Pato, Carlos C; Pato, Michele M; MacArthur, Daniel G DG; McCarroll, Steven A SA; Eggan, Kevin K
Publication Date: 2022-03-03

Variant appearance in text: HP: 1006G>A
PubMed Link: 35176222
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: HP: 1006G>A; E336K
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease.

Orphanet Journal Of Rare Diseases
Zhang, Huiwen H; Wang, Yu Y; Gong, Zhuwen Z; Li, Xiaoyan X; Qiu, Wenjuan W; Han, Lianshu L; Ye, Jun J; Gu, Xuefan X
Publication Date: 2013-01-28

Variant appearance in text: HP: 1006G>A
PubMed Link: 23356216
Variant Present in the following documents:
  • Main text
  • 1750-1172-8-15.pdf
View BVdb publication page