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.F1053L

c.3159C>G

Surrounding Variants

1 paper

NM_017669.4

p.F1053L

c.3159C>A

1 paper

NM_017669.4

p.F1053L

c.3157T>C

1 paper

NM_017669.4

p.S1054L

c.3161C>T

1 paper

NM_017669.4

p.T1063A

c.3187A>G

1 paper

NM_017669.4

p.A1017E

c.3050C>A

1 paper

NM_017669.4

p.R1113I

c.3338G>T

1 paper

NM_017669.4

p.E1128K

c.3382G>A

1 paper

NM_017669.4

p.Y1141Y

c.3423T>C

1 paper

NM_017669.4

p.G1148R

c.3442G>C

1 paper

NM_017669.4

p.G1148R

c.3442G>A

1 paper

NM_017669.4

p.F953L

c.2859C>G

1 paper

NM_017669.4

p.F953L

c.2859C>A