Varaico: Literature-Extracted Genetic Variants

Gene:ERCC5
Variant:p.Q747L

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.Q747L
c.2240A>T
Surrounding Variants
1 paper
NM_000123.4
p.Q747K
c.2239C>A
1 paper
NM_000123.4
p.Q746H
c.2238G>C
1 paper
NM_000123.4
p.A745V
c.2234C>T
16 papers
NM_000123.4
p.K751Q
c.2251A>C
1 paper
NM_000123.4
p.K751*
c.2251A>T
1 paper
NM_000123.4
p.A752_A762del0
c.2254_2286del33
1 paper
NM_000123.4
p.L743V
c.2227C>G
1 paper
NM_000123.4
p.Q753K
c.2257C>A
1 paper
NM_000123.4
p.Q753E
c.2257C>G
3 papers
NM_000123.4
p.Q753delFs
c.2258delA
1 paper
NM_000123.4
p.K754fs
c.2260_2261fs
1 paper
NM_000123.4
p.K754I
c.2261A>T
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