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

26 papers

NM_000124.4

p.R1213G

c.3637A>G

Surrounding Variants

2 papers

NM_000124.4

p.K1210*

c.3628A>T

1 paper

NM_000124.4

p.S1209_K1210insFs

c.3627_3628insT

1 paper

NM_000124.4

p.S1209fs

c.3625_3626fs

3 papers

NM_000124.4

p.F1217C

c.3650T>G

1 paper

NM_000124.4

p.T1220I

c.3659C>T

6 papers

NM_000124.4

p.R1221*

c.3661C>T

3 papers

NM_000124.4

p.K1203fs

c.3607_3608fs

2 papers

NM_000124.4

p.K1203insFs

c.3607_3608ins26

1 paper

NM_000124.4

p.K1203ins5

c.3607_3608ins15

2 papers

NM_000124.4

p.K1198fs

c.3592_3593fs

3 papers

NM_000124.4

p.E1197_K1198insFs

c.3591_3592dupGA

34 papers

NM_000124.4

p.R1230P

c.3689G>C