Varaico: Literature-Extracted Genetic Variants

SMARCAL1

358 papers

RefSeq Summary

The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by...

Pfam Domains

HARPaa 248–302UCSCHepA-related protein (HARP)

HARPaa 343–397UCSCHepA-related protein (HARP)

SNF2-rel_domaa 439–709UCSCSNF2-related domain

Helicase_Caa 708–822UCSCHelicase conserved C-terminal domain

Gene Aliases

HGNC Name

SNF2 related chromatin remodeling annealing helicase 1

HGNC Alias Symbols

HHARP; HARP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014140.4

p.P105P

c.315C>A

Surrounding Variants

1 paper

NM_014140.4

p.G110D

c.329G>A

3 papers

NM_014140.4

p.R114insFs

c.340_341ins7

2 papers

NM_014140.4

p.K100*

c.298A>T

1 paper

NM_014140.4

p.W98*

c.293G>A

1 paper

NM_014140.4

p.W98R

c.292T>C

2 papers

NM_014140.4

p.R114fs

c.340_341fs

2 papers

NM_014140.4

p.R114H

c.341G>A

1 paper

NM_014140.4

p.R114insFs

c.341_342ins7

1 paper

NM_014140.4

p.K95N

c.285G>C

1 paper

NM_014140.4

p.K95N

c.285G>T

1 paper

NM_014140.4

p.A118V

c.353C>T

1 paper

NM_014140.4

p.L119fs

c.355_356fs