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.S429fs

c.1285_1286fs

Surrounding Variants

1 paper

NM_000124.4

p.S429fs

c.1285_1286fs

1 paper

NM_000124.4

p.S430insFs

c.1288_1289insTA

1 paper

NM_000124.4

p.P428L

c.1283C>T

4 papers

NM_000124.4

p.F427insFs

c.1280dupT

1 paper

NM_000124.4

p.E432fs

c.1294_1295fs

4 papers

NM_000124.4

p.E433*

c.1297G>T

2 papers

NM_000124.4

p.E433A

c.1298A>C

10 papers

NM_000124.4

p.D425A

c.1274A>C

1 paper

NM_000124.4

p.E435K

c.1303G>A

1 paper

NM_000124.4

p.E441G

c.1322A>G

2 papers

NM_000124.4

p.G431_G440delFs

c.1293_1320del28

2 papers

NM_000124.4

p.V417fs

c.1249_1250fs