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

1–12 of 69 variants

2 papers

NM_017669.4

p.R398H

c.1193G>A

2 papers

NM_017669.4

p.R505Q

c.1514G>A

2 papers

NM_017669.4

p.Q1246P

c.3737A>C

1 paper

NM_017669.4

p.F7L

c.21T>A

1 paper

NM_017669.4

p.P8L

c.23C>T

1 paper

NM_017669.4

p.A18T

c.52G>A

1 paper

NM_017669.4

p.E27K

c.79G>A

1 paper

NM_017669.4

p.G35R

c.103G>A

1 paper

NM_017669.4

p.L37Q

c.110T>A

1 paper

NM_017669.4

p.A47V

c.140C>T

1 paper

NM_017669.4

p.P52S

c.154C>T

1 paper

NM_017669.4

p.I60I

c.180C>T