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.V641fs

c.1921_1922fs

Surrounding Variants

5 papers

NM_014140.4

p.V641insFs

c.1921dupG

12 papers

NM_014140.4

p.R644W

c.1930C>T

3 papers

NM_014140.4

p.R644Q

c.1931G>A

1 paper

NM_014140.4

p.R645delFs

c.1934_1935delGC

1 paper

NM_014140.4

p.L637P

c.1910T>C

2 papers

NM_014140.4

p.R645S

c.1933C>A

2 papers

NM_014140.4

p.R645G

c.1933C>G

20 papers

NM_014140.4

p.R645C

c.1933C>T

2 papers

NM_014140.4

p.R645delFs

c.1934delG

6 papers

NM_014140.4

p.R645H

c.1934G>A

11 papers

NM_014140.4

p.K647Q

c.1939A>C

13 papers

NM_014140.4

p.K647T

c.1940A>C