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.P170S

c.508C>T

Surrounding Variants

1 paper

NM_014140.4

p.P170L

c.509C>T

1 paper

NM_014140.4

p.S173P

c.517T>C

1 paper

NM_014140.4

p.T176T

c.528A>G

3 papers

NM_014140.4

p.T163N

c.488C>A

1 paper

NM_014140.4

p.A178D

c.533C>A

1 paper

NM_014140.4

p.Q183K

c.547C>A

1 paper

NM_014140.4

p.Q183_P184delFs

c.549_550delGC

1 paper

NM_014140.4

p.F156insFs

c.467dupT

1 paper

NM_014140.4

p.R155G

c.463A>G

1 paper

NM_014140.4

p.E153E

c.459G>A

1 paper

NM_014140.4

p.A188V

c.563C>T

1 paper

NM_014140.4

p.L190*

c.569T>G