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

2 papers

NM_000124.4

p.D1269A

c.3806A>C

Surrounding Variants

1 paper

NM_000124.4

p.H1268H

c.3804C>T

1 paper

NM_000124.4

p.A1270V

c.3809C>T

1 paper

NM_000124.4

p.H1268D

c.3802C>G

1 paper

NM_000124.4

p.D1273N

c.3817G>A

2 papers

NM_000124.4

p.H1263_S1264delFs

c.3789_3790delTG

1 paper

NM_000124.4

p.H1263H

c.3789C>T

1 paper

NM_000124.4

p.H1263fs

c.3787_3788fs

3 papers

NM_000124.4

p.V1262M

c.3784G>A

1 paper

NM_000124.4

p.V1280_L1281insT

c.3838_3842ins3

1 paper

NM_000124.4

p.V1282M

c.3844G>A

1 paper

NM_000124.4

p.V1282A

c.3845T>C

15 papers

NM_000124.4

p.R1288*

c.3862C>T