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

3 papers

NM_000124.4

p.W1314*

c.3941G>A

Surrounding Variants

3 papers

NM_000124.4

p.W1314*

c.3942G>A

3 papers

NM_000124.4

p.R1318fs

c.3952_3953fs

1 paper

NM_000124.4

p.R1318fs

c.3952_3953fs

4 papers

NM_000124.4

p.R1318delFs

c.3952_3953delCT

2 papers

NM_000124.4

p.V1308L

c.3922G>T

2 papers

NM_000124.4

p.V1308L

c.3922G>C

2 papers

NM_000124.4

p.S1321C

c.3962C>G

3 papers

NM_000124.4

p.G1322V

c.3965G>T

1 paper

NM_000124.4

p.L1305L

c.3913C>T

1 paper

NM_000124.4

p.L1305V

c.3913C>G

4 papers

NM_000124.4

p.Q1302*

c.3904C>T

2 papers

NM_000124.4

p.K1328insFs

c.3983dupA