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.P199insFs

c.596dupC

Surrounding Variants

1 paper

NM_014140.4

p.A197T

c.589G>A

1 paper

NM_014140.4

p.A197fs

c.589_590fs

1 paper

NM_014140.4

p.K196N

c.588A>T

1 paper

NM_014140.4

p.K196insFs

c.588dupA

1 paper

NM_014140.4

p.G201R

c.601G>A

1 paper

NM_014140.4

p.N203S

c.608A>G

1 paper

NM_014140.4

p.N203K

c.609C>A

1 paper

NM_014140.4

p.S205P

c.613T>C

1 paper

NM_014140.4

p.S205_Y206delFs

c.615_616delTT

1 paper

NM_014140.4

p.L190*

c.569T>G

1 paper

NM_014140.4

p.A188V

c.563C>T

1 paper

NM_014140.4

p.H208R

c.623A>G