Varaico: Literature-Extracted Genetic Variants

Gene:ERCC6L
Variant:p.P8L

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.P8L
c.23C>T
Surrounding Variants
1 paper
NM_017669.4
p.F7L
c.21T>A
1 paper
NM_017669.4
p.A18T
c.52G>A
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