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

1–12 of 487 variants

36 papers

NM_014140.4

p.E848*

c.2542G>T

33 papers

NM_014140.4

p.R764Q

c.2291G>A

30 papers

NM_014140.4

p.R820H

c.2459G>A

21 papers

NM_014140.4

p.R586W

c.1756C>T

20 papers

NM_014140.4

p.R645C

c.1933C>T

15 papers

NM_014140.4

p.M288Splc

c.863-2A>G

15 papers

NM_014140.4

p.E377Q

c.1129G>C

15 papers

NM_014140.4

p.R561C

c.1681C>T

14 papers

NM_014140.4

p.F279S

c.836T>C

13 papers

NM_014140.4

p.R17*

c.49C>T

13 papers

NM_014140.4

p.K647T

c.1940A>C

13 papers

NM_014140.4

p.T705I

c.2114C>T