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.E26K

c.76G>A

Surrounding Variants

1 paper

NM_014140.4

p.K27Q

c.79A>C

1 paper

NM_014140.4

p.K27E

c.79A>G

1 paper

NM_014140.4

p.K27R

c.80A>G

1 paper

NM_014140.4

p.K27M

c.80A>T

1 paper

NM_014140.4

p.K27K

c.81G>A

1 paper

NM_014140.4

p.R24I

c.71G>T

1 paper

NM_014140.4

p.R23C

c.67C>T

1 paper

NM_014140.4

p.A30G

c.89C>G

1 paper

NM_014140.4

p.E31del1

c.91_93delGAA

1 paper

NM_014140.4

p.L21L

c.61C>T

1 paper

NM_014140.4

p.A20S

c.58G>T

8 papers

NM_014140.4

p.Q34*

c.100C>T