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

4 papers

NM_014140.4

p.F801V

c.2401T>G

Surrounding Variants

2 papers

NM_014140.4

p.W806R

c.2416T>A

2 papers

NM_014140.4

p.W806R

c.2416T>C

3 papers

NM_014140.4

p.P808R

c.2423C>G

2 papers

NM_014140.4

p.G809R

c.2425G>A

2 papers

NM_014140.4

p.G809R

c.2425G>C

2 papers

NM_014140.4

p.F793del1

c.2377_2378delTTC

1 paper

NM_014140.4

p.G809_V810Splc

c.2427+1G>A

1 paper

NM_014140.4

p.L782fs

c.2344_2345fs

1 paper

NM_014140.4

p.V781_S783delFs

c.2343_2347del5

7 papers

NM_014140.4

p.S774*

c.2321C>A

1 paper

NM_014140.4

p.L773fs

c.2317_2318fs

2 papers

NM_014140.4

p.Q770*

c.2308C>T