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.F693L

c.2077T>C

Surrounding Variants

1 paper

NM_000124.4

p.F693I

c.2077T>A

1 paper

NM_000124.4

p.F693L

c.2079C>G

1 paper

NM_000124.4

p.F693L

c.2079C>A

1 paper

NM_000124.4

p.I692fs

c.2074_2075fs

1 paper

NM_000124.4

p.P694L

c.2081C>T

8 papers

NM_000124.4

p.S687L

c.2060C>T

1 paper

NM_000124.4

p.G698insFs

c.2092_2093insG

1 paper

NM_000124.4

p.T699insFs

c.2095_2096insC

8 papers

NM_000124.4

p.W686C

c.2058G>T

8 papers

NM_000124.4

p.W686C

c.2058G>C

2 papers

NM_000124.4

p.W686*

c.2058G>A

2 papers

NM_000124.4

p.T699M

c.2096C>T