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

20 papers

NM_000124.4

p.W851R

c.2551T>A

Surrounding Variants

20 papers

NM_000124.4

p.W851R

c.2551T>C

1 paper

NM_000124.4

p.I850M

c.2550A>G

1 paper

NM_000124.4

p.L848F

c.2544G>T

1 paper

NM_000124.4

p.L848F

c.2544G>C

7 papers

NM_000124.4

p.Q854*

c.2560C>T

12 papers

NM_000124.4

p.R857*

c.2569C>T

1 paper

NM_000124.4

p.V858A

c.2573T>C

1 paper

NM_000124.4

p.L859L

c.2575T>C

1 paper

NM_000124.4

p.L859S

c.2576T>C

1 paper

NM_000124.4

p.M841I

c.2523G>T

1 paper

NM_000124.4

p.M841I

c.2523G>C

1 paper

NM_000124.4

p.M841I

c.2523G>A