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

13 papers

NM_014140.4

p.T705I

c.2114C>T

Surrounding Variants

1 paper

NM_014140.4

p.R704K

c.2111G>A

3 papers

NM_014140.4

p.F702V

c.2104T>G

1 paper

NM_014140.4

p.L700I

c.2098C>A

1 paper

NM_014140.4

p.D696N

c.2086G>A

2 papers

NM_014140.4

p.I714Splc

c.2141+5G>A

1 paper

NM_014140.4

p.K691*

c.2071A>T

2 papers

NM_014140.4

p.I714Splc

c.2142-1G>A

2 papers

NM_014140.4

p.I717insFs

c.2149_2150dupAT

3 papers

NM_014140.4

p.L718fs

c.2152_2153fs

1 paper

NM_014140.4

p.L718S

c.2153T>C

1 paper

NM_014140.4

p.D719delFs

c.2155delG

1 paper

NM_014140.4

p.F728_L729del2

c.2182_2186del6