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.P567L

c.1700C>T

Surrounding Variants

2 papers

NM_014140.4

p.V568delFs

c.1702delG

1 paper

NM_014140.4

p.P567S

c.1699C>T

2 papers

NM_014140.4

p.M566I

c.1698G>C

1 paper

NM_014140.4

p.V568F

c.1702G>T

2 papers

NM_014140.4

p.M566L

c.1696A>T

2 papers

NM_014140.4

p.R563*

c.1687C>T

1 paper

NM_014140.4

p.K570_V571Splc

c.1710+5G>A

10 papers

NM_014140.4

p.R561H

c.1682G>A

15 papers

NM_014140.4

p.R561C

c.1681C>T

1 paper

NM_014140.4

p.T559I

c.1676C>T

1 paper

NM_014140.4

p.N556delFs

c.1667_1668delAC

3 papers

NM_014140.4

p.E550A

c.1649A>C