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.L738delFs

c.2213delA

Surrounding Variants

1 paper

NM_000400.4

p.L739R

c.2216T>G

1 paper

NM_000400.4

p.L739P

c.2216T>C

1 paper

NM_000400.4

p.L739H

c.2216T>A

1 paper

NM_000400.4

p.G735_L739delins

c.2205_2216delinsACA

2 papers

NM_000400.4

p.S737S

c.2211C>T

2 papers

NM_000400.4

p.S737P

c.2209T>C

1 paper

NM_000400.4

p.L741V

c.2221C>G

1 paper

NM_000400.4

p.L741P

c.2222T>C

1 paper

NM_000400.4

p.E742Q

c.2224G>C

2 papers

NM_000400.4

p.E742K

c.2224G>A

1 paper

NM_000400.4

p.L744R

c.2231T>G

1 paper

NM_000400.4

p.L744P

c.2231T>C