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.D816E

c.2448C>G

Surrounding Variants

1 paper

NM_014140.4

p.D816E

c.2448C>A

4 papers

NM_014140.4

p.R817C

c.2449C>T

3 papers

NM_014140.4

p.R817H

c.2450G>A

1 paper

NM_014140.4

p.V818M

c.2452G>A

30 papers

NM_014140.4

p.R820H

c.2459G>A

1 paper

NM_014140.4

p.R820L

c.2459G>T

4 papers

NM_014140.4

p.I821S

c.2462T>G

1 paper

NM_014140.4

p.G822*

c.2464G>T

1 paper

NM_014140.4

p.V810fs

c.2428_2429fs

1 paper

NM_014140.4

p.S826F

c.2477C>T

1 paper

NM_014140.4

p.V827M

c.2479G>A

1 paper

NM_014140.4

p.G836fs

c.2506_2507fs