Varaico: Literature-Extracted Genetic Variants

ERCC6L

60 papers

RefSeq Summary

This gene encodes a member of the SWItch/Sucrose Non-Fermentable (SWI/SNF2) family of proteins, and contains a SNF2-like ATPase domain and a PICH family domain. One distinguishing feature of this SWI/...

Pfam Domains

SNF2-rel_domaa 99–416UCSCSNF2-related domain

Helicase_Caa 460–574UCSCHelicase conserved C-terminal domain

Gene Aliases

HGNC Name

ERCC excision repair 6 like, spindle assembly checkpoint helicase

HGNC Alias Symbols

FLJ20105; PICH; RAD26L

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_017669.4

p.I60I

c.180C>T

Surrounding Variants

1 paper

NM_017669.4

p.Q61K

c.181C>A

1 paper

NM_017669.4

p.E65G

c.194A>G

1 paper

NM_017669.4

p.E69*

c.205G>T

1 paper

NM_017669.4

p.P52S

c.154C>T

1 paper

NM_017669.4

p.A47V

c.140C>T

1 paper

NM_017669.4

p.L37Q

c.110T>A

1 paper

NM_017669.4

p.G35R

c.103G>A

1 paper

NM_017669.4

p.E27K

c.79G>A

1 paper

NM_017669.4

p.Y108insFs

c.323_324ins10

1 paper

NM_017669.4

p.G114E

c.341G>A

1 paper

NM_017669.4

p.G118D

c.353G>A

1 paper

NM_017669.4

p.M124L

c.370A>T