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.D228E

c.684T>A

Surrounding Variants

1 paper

NM_017669.4

p.D228E

c.684T>G

1 paper

NM_017669.4

p.E229Q

c.685G>C

1 paper

NM_017669.4

p.V225_I226Fs

c.675_676delinsGFs

1 paper

NM_017669.4

p.W222*

c.666G>A

1 paper

NM_017669.4

p.R252C

c.754C>T

1 paper

NM_017669.4

p.Q192R

c.575A>G

1 paper

NM_017669.4

p.L188P

c.563T>C

1 paper

NM_017669.4

p.C275Y

c.824G>A

1 paper

NM_017669.4

p.D182N

c.544G>A

1 paper

NM_017669.4

p.H147_L150delFs

c.441_448del8

1 paper

NM_017669.4

p.M318K

c.953T>A

1 paper

NM_017669.4

p.P323_Y324ins10

c.967_971ins30