Varaico: Literature-Extracted Genetic Variants

Gene:ERCC5
Variant:p.K1157R

ERCC5

1,002 papers

RefSeq Summary

This gene encodes a single-strand specific DNA endonuclease that makes the 3' incision in DNA excision repair following UV-induced damage. The protein may also function in other cellular processes, in...

Pfam Domains

XPG_Naa 1–98UCSCXPG N-terminal domain
XPG_Iaa 780–861UCSCXPG I-region

Gene Aliases

HGNC Name

ERCC excision repair 5, endonuclease

HGNC Previous Symbols

ERCM2; XPGC

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000123.4
p.K1157R
c.3470A>G
Surrounding Variants
1 paper
NM_000123.4
p.G1155V
c.3464G>T
1 paper
NM_000123.4
p.D1153G
c.3458A>G
1 paper
NM_000123.4
p.V1161D
c.3482T>A
1 paper
NM_000123.4
p.D1153N
c.3457G>A
1 paper
NM_000123.4
p.V1163_T1164del2
c.3487_3491del6
1 paper
NM_000123.4
p.D1152fs
c.3454_3455fs
2 papers
NM_000123.4
p.V1163M
c.3487G>A
1 paper
NM_000123.4
p.S1151R
c.3453T>A
1 paper
NM_000123.4
p.S1151R
c.3453T>G
1 paper
NM_000123.4
p.D1152_G1155delFs
c.3454_3464del11
1 paper
NM_000123.4
p.S1151R
c.3451A>C
1 paper
NM_000123.4
p.T1164T
c.3492C>A
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