Varaico: Literature-Extracted Genetic Variants

ERCC6

789 papers

RefSeq Summary

This gene encodes a DNA-binding protein that is important in transcription-coupled excision repair. The encoded protein has ATP-stimulated ATPase activity, interacts with several transcription and exc...

Pfam Domains

SNF2-rel_domaa 510–811UCSCSNF2-related domain

DDE_Tnp_1_7aa 609–967UCSCTransposase IS4

Helicase_Caa 839–952UCSCHelicase conserved C-terminal domain

WHD_Rad26_CSBaa 1425–1493UCSCRad26/CSB winged helix DNA-binding domain

Gene Aliases

HGNC Name

ERCC excision repair 6, chromatin remodeling factor

HGNC Previous Symbol

CKN2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000124.4

p.V1251I

c.3751G>A

Surrounding Variants

1 paper

NM_000124.4

p.L1252W

c.3755T>G

4 papers

NM_000124.4

p.D1249N

c.3745G>A

1 paper

NM_000124.4

p.L1255P

c.3764T>C

1 paper

NM_000124.4

p.K1257Q

c.3769A>C

1 paper

NM_000124.4

p.S1259L

c.3776C>T

3 papers

NM_000124.4

p.S1259*

c.3776C>G

3 papers

NM_000124.4

p.S1259*

c.3776C>A

1 paper

NM_000124.4

p.S1259S

c.3777A>G

2 papers

NM_000124.4

p.V1260Splc

c.3778+2T>G

1 paper

NM_000124.4

p.K1239fs

c.3715_3716fs

1 paper

NM_000124.4

p.K1239delFs

c.3715_3716delTT

1 paper

NM_000124.4

p.K1239R

c.3716A>G