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.S313delFs

c.939delC

Surrounding Variants

1 paper

NM_014140.4

p.S313F

c.938C>T

1 paper

NM_014140.4

p.P312A

c.934C>G

5 papers

NM_014140.4

p.S315R

c.943A>C

5 papers

NM_014140.4

p.S315R

c.945C>A

6 papers

NM_014140.4

p.S315R

c.945C>G

1 paper

NM_014140.4

p.S309S

c.927C>T

1 paper

NM_014140.4

p.S309N

c.926G>A

4 papers

NM_014140.4

p.Q319*

c.955C>T

1 paper

NM_014140.4

p.A320A

c.960C>T

1 paper

NM_014140.4

p.L322delFs

c.965delT

1 paper

NM_014140.4

p.L322H

c.965T>A

1 paper

NM_014140.4

p.S324_S327del0

c.972_980del9