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.R1448K

c.4343G>A

Surrounding Variants

2 papers

NM_000124.4

p.T1447A

c.4339A>G

1 paper

NM_000124.4

p.A1445S

c.4333G>T

1 paper

NM_000124.4

p.A1445T

c.4333G>A

2 papers

NM_000124.4

p.Q1444H

c.4332G>T

2 papers

NM_000124.4

p.Q1444H

c.4332G>C

1 paper

NM_000124.4

p.T1441I

c.4322C>T

1 paper

NM_000124.4

p.K1457R

c.4370A>G

5 papers

NM_000124.4

p.A1439P

c.4315G>C

3 papers

NM_000124.4

p.F1437I

c.4309T>A

1 paper

NM_000124.4

p.V1465I

c.4393G>A

1 paper

NM_000124.4

p.E1430K

c.4288G>A

5 papers

NM_000124.4

p.R1467*

c.4399C>T