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.G815D

c.2444G>A

Surrounding Variants

1 paper

NM_000124.4

p.G814E

c.2441G>A

1 paper

NM_000124.4

p.S813F

c.2438C>T

1 paper

NM_000124.4

p.N807K

c.2421C>G

1 paper

NM_000124.4

p.P823T

c.2467C>A

1 paper

NM_000124.4

p.N807K

c.2421C>A

1 paper

NM_000124.4

p.E826fs

c.2476_2477fs

1 paper

NM_000124.4

p.L827L

c.2479C>T

1 paper

NM_000124.4

p.E828Q

c.2482G>C

1 paper

NM_000124.4

p.A801T

c.2401G>A

1 paper

NM_000124.4

p.I800T

c.2399T>C

7 papers

NM_000124.4

p.S797C

c.2390C>G

1 paper

NM_000124.4

p.F796F

c.2388C>T