SI c.1891G>A ;(p.G631R)

Variant ID: 3-164760960-C-T

NM_001041.3(SI):c.1891G>A;(p.G631R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


UV-exposure, endogenous DNA damage, and DNA replication errors shape the spectra of genome changes in human skin.

Plos Genetics
Saini, Natalie N; Giacobone, Camille K CK; Klimczak, Leszek J LJ; Papas, Brian N BN; Burkholder, Adam B AB; Li, Jian-Liang JL; Fargo, David C DC; Bai, Re R; Gerrish, Kevin K; Innes, Cynthia L CL; Schurman, Shepherd H SH; Gordenin, Dmitry A DA
Publication Date: 2021-01

Variant appearance in text: SI: G631R
PubMed Link: 33444353
Variant Present in the following documents:
  • pgen.1009302.s014.xlsx, sheet 1
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Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.

Human Genetics
Janssen, Sabine S; Ramaswami, Gokul G; Davis, Erica E EE; Hurd, Toby T; Airik, Rannar R; Kasanuki, Jennifer M JM; Van Der Kraak, Lauren L; Allen, Susan J SJ; Beales, Philip L PL; Katsanis, Nicholas N; Otto, Edgar A EA; Hildebrandt, Friedhelm F
Publication Date: 2011-01

Variant appearance in text: SI: 1891G>A
PubMed Link: 21052717
Variant Present in the following documents:
  • Main text
View BVdb publication page