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

6 papers

NM_000124.4

p.L45L

c.135C>G

Surrounding Variants

1 paper

NM_000124.4

p.S46F

c.137C>T

1 paper

NM_000124.4

p.R48L

c.143G>T

1 paper

NM_000124.4

p.E43K

c.127G>A

1 paper

NM_000124.4

p.E42D

c.126G>T

1 paper

NM_000124.4

p.V50M

c.148G>A

1 paper

NM_000124.4

p.V50V

c.150G>A

1 paper

NM_000124.4

p.G39G

c.117G>C

1 paper

NM_000124.4

p.G39R

c.115G>A

1 paper

NM_000124.4

p.G53R

c.157G>C

1 paper

NM_000124.4

p.G53R

c.157G>A

1 paper

NM_000124.4

p.D52delFs

c.155_156delGT

1 paper

NM_000124.4

p.D38Y

c.112G>T