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.K289T

c.866A>C

Surrounding Variants

15 papers

NM_014140.4

p.M288Splc

c.863-2A>G

2 papers

NM_014140.4

p.Q292*

c.874C>T

1 paper

NM_014140.4

p.P295S

c.883C>T

1 paper

NM_014140.4

p.T296delFs

c.888delG

1 paper

NM_014140.4

p.P301A

c.901C>G

1 paper

NM_014140.4

p.P301R

c.902C>G

1 paper

NM_014140.4

p.S309N

c.926G>A

1 paper

NM_014140.4

p.S309S

c.927C>T

1 paper

NM_014140.4

p.P312A

c.934C>G

1 paper

NM_014140.4

p.S313delFs

c.939delC

1 paper

NM_014140.4

p.S313F

c.938C>T

5 papers

NM_014140.4

p.S315R

c.943A>C