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.H90Y

c.268C>T

Surrounding Variants

1 paper

NM_014140.4

p.S91_Q93delFs

c.273_279del7

1 paper

NM_014140.4

p.S89F

c.266C>T

1 paper

NM_014140.4

p.S91_Q93del3

c.271_278del9

1 paper

NM_014140.4

p.S91G

c.271A>G

1 paper

NM_014140.4

p.H87Y

c.259C>T

1 paper

NM_014140.4

p.R85I

c.254G>T

1 paper

NM_014140.4

p.Q84R

c.251A>G

1 paper

NM_014140.4

p.K95N

c.285G>C

1 paper

NM_014140.4

p.K95N

c.285G>T

1 paper

NM_014140.4

p.Q84*

c.250C>T

1 paper

NM_014140.4

p.D83A

c.248A>C

1 paper

NM_014140.4

p.W98R

c.292T>C