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

8 papers

NM_000124.4

p.R683Q

c.2048G>A

Surrounding Variants

14 papers

NM_000124.4

p.R683*

c.2047C>T

1 paper

NM_000124.4

p.L682F

c.2044C>T

1 paper

NM_000124.4

p.L682I

c.2044C>A

2 papers

NM_000124.4

p.W686*

c.2057G>A

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

6 papers

NM_000124.4

p.N680D

c.2038A>G

8 papers

NM_000124.4

p.S687L

c.2060C>T

1 paper

NM_000124.4

p.P677L

c.2030C>T

1 paper

NM_000124.4

p.P677S

c.2029C>T

3 papers

NM_000124.4

p.G675R

c.2023G>C