Varaico: Literature-Extracted Genetic Variants

ERCC2

2,375 papers

RefSeq Summary

The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral membe...

Pfam Domains

DEAD_2aa 72–256UCSCDEAD_2

HBBaa 269–413UCSCHelical and beta-bridge domain

Helicase_C_2aa 524–700UCSCHelicase C-terminal domain

Gene Aliases

HGNC Name

ERCC excision repair 2, TFIIH core complex helicase subunit

HGNC Previous Symbol

XPD

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000400.4

p.T49S

c.145A>T

Surrounding Variants

4 papers

NM_000400.4

p.T49A

c.145A>G

1 paper

NM_000400.4

p.T49P

c.145A>C

1 paper

NM_000400.4

p.K48N

c.144G>T

1 paper

NM_000400.4

p.K48N

c.144G>C

1 paper

NM_000400.4

p.K48K

c.144G>A

5 papers

NM_000400.4

p.T49I

c.146C>T

1 paper

NM_000400.4

p.T49R

c.146C>G

1 paper

NM_000400.4

p.T49K

c.146C>A

1 paper

NM_000400.4

p.K48M

c.143A>T

26 papers

NM_000400.4

p.K48R

c.143A>G

1 paper

NM_000400.4

p.K48T

c.143A>C

1 paper

NM_000400.4

p.V50L

c.148G>T