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.W236*

c.707G>A

Surrounding Variants

1 paper

NM_000124.4

p.W236*

c.708G>A

1 paper

NM_000124.4

p.E237K

c.709G>A

1 paper

NM_000124.4

p.A235T

c.703G>A

1 paper

NM_000124.4

p.L239R

c.716T>G

1 paper

NM_000124.4

p.E233A

c.698A>C

2 papers

NM_000124.4

p.M229_Q232del4

c.685_695del12

1 paper

NM_000124.4

p.R241H

c.722G>A

1 paper

NM_000124.4

p.P230P

c.690T>G

1 paper

NM_000124.4

p.Q244*

c.730C>T

1 paper

NM_000124.4

p.Q244L

c.731A>T

1 paper

NM_000124.4

p.S223_M227del5

c.667_680del15

1 paper

NM_000124.4

p.S226S

c.678C>T