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.V234L

c.700G>C

Surrounding Variants

1 paper

NM_014140.4

p.N235K

c.705C>A

1 paper

NM_014140.4

p.N235K

c.705C>G

1 paper

NM_014140.4

p.S229L

c.686C>T

1 paper

NM_014140.4

p.K240K

c.720G>A

1 paper

NM_014140.4

p.G227fs

c.679_680fs

1 paper

NM_014140.4

p.C241Y

c.722G>A

2 papers

NM_014140.4

p.S226_G227delFs

c.678_679delAG

1 paper

NM_014140.4

p.K225E

c.673A>G

1 paper

NM_014140.4

p.R243delFs

c.728_729delGG

1 paper

NM_014140.4

p.Q224*

c.670C>T

1 paper

NM_014140.4

p.Q223fs

c.667_668fs

1 paper

NM_014140.4

p.L222_Q223insFs

c.666_667insA