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.S557G

c.1669A>G

Surrounding Variants

1 paper

NM_017669.4

p.T546S

c.1636A>T

1 paper

NM_017669.4

p.V541F

c.1621G>T

1 paper

NM_017669.4

p.T535I

c.1604C>T

1 paper

NM_017669.4

p.R583T

c.1748G>C

1 paper

NM_017669.4

p.R596G

c.1786A>G

1 paper

NM_017669.4

p.R516*

c.1546C>T

2 papers

NM_017669.4

p.R505Q

c.1514G>A

1 paper

NM_017669.4

p.R650T

c.1949G>C

1 paper

NM_017669.4

p.D673G

c.2018A>G

1 paper

NM_017669.4

p.Q702*

c.2104C>T

1 paper

NM_017669.4

p.F710F

c.2130C>T

2 papers

NM_017669.4

p.R398H

c.1193G>A