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.L52L

c.156G>A

Surrounding Variants

1 paper

NM_000400.4

p.L52L

c.156G>C

1 paper

NM_000400.4

p.L52R

c.155T>G

1 paper

NM_000400.4

p.L52P

c.155T>C

1 paper

NM_000400.4

p.L53M

c.157T>A

1 paper

NM_000400.4

p.L52Q

c.155T>A

1 paper

NM_000400.4

p.L53W

c.158T>G

1 paper

NM_000400.4

p.L53*

c.158T>A

1 paper

NM_000400.4

p.L52V

c.154C>G

2 papers

NM_000400.4

p.L52M

c.154C>A

1 paper

NM_000400.4

p.L53F

c.159G>T

1 paper

NM_000400.4

p.L53F

c.159G>C

2 papers

NM_000400.4

p.A54T

c.160G>A