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.R134W

c.400C>T

Surrounding Variants

1 paper

NM_000124.4

p.E132_Y133delFs

c.394_398del5

1 paper

NM_000124.4

p.R134delFs

c.400delG

1 paper

NM_000124.4

p.K131K

c.393G>A

5 papers

NM_000124.4

p.L137L

c.411G>A

1 paper

NM_000124.4

p.D139H

c.415G>C

3 papers

NM_000124.4

p.V129M

c.385G>A

1 paper

NM_000124.4

p.D128E

c.384C>G

1 paper

NM_000124.4

p.D139D

c.417C>T

1 paper

NM_000124.4

p.D128A

c.383A>C

1 paper

NM_000124.4

p.D128N

c.382G>A

1 paper

NM_000124.4

p.L140F

c.418C>T

1 paper

NM_000124.4

p.L140R

c.419T>G