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.H1035fs

c.3103_3104fs

Surrounding Variants

1 paper

NM_000124.4

p.H1035_L1036insT

c.3103_3107ins3

1 paper

NM_000124.4

p.H1035delFs

c.3103delG

2 papers

NM_000124.4

p.C1034_H1035insT

c.3100_3104ins3

1 paper

NM_000124.4

p.P1032_L1036delFs

c.3095_3107del13

1 paper

NM_000124.4

p.R1038fs

c.3112_3113fs

1 paper

NM_000124.4

p.R1038I

c.3113G>T

4 papers

NM_000124.4

p.R1038T

c.3113G>C

1 paper

NM_000124.4

p.R1038K

c.3113G>A

1 paper

NM_000124.4

p.R1038delFs

c.3112delT

2 papers

NM_000124.4

p.T1031A

c.3091A>G

7 papers

NM_000124.4

p.Q1041P

c.3122A>C

1 paper

NM_000124.4

p.P1042S

c.3124C>T