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.G667R

c.1999G>A

Surrounding Variants

1 paper

NM_014140.4

p.G667R

c.1999G>C

1 paper

NM_014140.4

p.G667A

c.2000G>C

1 paper

NM_014140.4

p.P666_G667insA

c.1996_2000ins3

1 paper

NM_014140.4

p.R668W

c.2002C>T

1 paper

NM_014140.4

p.A665G

c.1994C>G

1 paper

NM_014140.4

p.A665S

c.1993G>T

1 paper

NM_014140.4

p.N670S

c.2009A>G

1 paper

NM_014140.4

p.V662V

c.1986G>T

2 papers

NM_014140.4

p.R659C

c.1975C>T

1 paper

NM_014140.4

p.L677L

c.2029C>T

1 paper

NM_014140.4

p.D678_A679del2

c.2032_2036del6

2 papers

NM_014140.4

p.Q653*

c.1957C>T