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.D1049G

c.3146A>G

Surrounding Variants

1 paper

NM_000124.4

p.D1049N

c.3145G>A

1 paper

NM_000124.4

p.P1051A

c.3151C>G

1 paper

NM_000124.4

p.K1052E

c.3154A>G

2 papers

NM_000124.4

p.K1052insFs

c.3156dupA

1 paper

NM_000124.4

p.R1053fs

c.3157_3158fs

9 papers

NM_000124.4

p.P1042L

c.3125C>T

1 paper

NM_000124.4

p.P1042S

c.3124C>T

7 papers

NM_000124.4

p.Q1041P

c.3122A>C

1 paper

NM_000124.4

p.R1038I

c.3113G>T

4 papers

NM_000124.4

p.R1038T

c.3113G>C

1 paper

NM_000124.4

p.R1038K

c.3113G>A

1 paper

NM_000124.4

p.R1038delFs

c.3112delT