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.D1425N

c.4273G>A

Surrounding Variants

2 papers

NM_000124.4

p.D1425A

c.4274A>C

1 paper

NM_000124.4

p.E1430K

c.4288G>A

31 papers

NM_000124.4

p.Q1413R

c.4238A>G

3 papers

NM_000124.4

p.F1437I

c.4309T>A

1 paper

NM_000124.4

p.L1412P

c.4235T>C

5 papers

NM_000124.4

p.A1439P

c.4315G>C

1 paper

NM_000124.4

p.G1410G

c.4230G>A

1 paper

NM_000124.4

p.G1410R

c.4228G>C

1 paper

NM_000124.4

p.G1410R

c.4228G>A

1 paper

NM_000124.4

p.T1441I

c.4322C>T

8 papers

NM_000124.4

p.E1408A

c.4223A>C

2 papers

NM_000124.4

p.E1406K

c.4216G>A