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.R586Q

c.1757G>A

Surrounding Variants

21 papers

NM_014140.4

p.R586W

c.1756C>T

1 paper

NM_014140.4

p.A588P

c.1762G>C

1 paper

NM_014140.4

p.A583T

c.1747G>A

2 papers

NM_014140.4

p.P582A

c.1744C>G

1 paper

NM_014140.4

p.P582S

c.1744C>T

1 paper

NM_014140.4

p.T581S

c.1741A>T

1 paper

NM_014140.4

p.G580D

c.1739G>A

1 paper

NM_014140.4

p.G580A

c.1739G>C

2 papers

NM_014140.4

p.G580V

c.1739G>T

1 paper

NM_014140.4

p.G580C

c.1738G>T

1 paper

NM_014140.4

p.Q593*

c.1777C>T

2 papers

NM_014140.4

p.S579*

c.1736C>A