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.R617W

c.1849C>T

Surrounding Variants

1 paper

NM_014140.4

p.R617_M618Splc

c.1851+1G>T

1 paper

NM_014140.4

p.A615_K616del2

c.1843_1847del6

1 paper

NM_014140.4

p.F608fs

c.1822_1823fs

1 paper

NM_014140.4

p.F608delFs

c.1824delT

1 paper

NM_014140.4

p.Q604*

c.1810C>T

1 paper

NM_014140.4

p.P599S

c.1795C>T

1 paper

NM_014140.4

p.K598E

c.1792A>G

1 paper

NM_014140.4

p.V597V

c.1791C>T

3 papers

NM_014140.4

p.A596T

c.1786G>A

1 paper

NM_014140.4

p.Q593*

c.1777C>T

1 paper

NM_014140.4

p.A588P

c.1762G>C

1 paper

NM_014140.4

p.R586Q

c.1757G>A