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.R217R

c.651G>A

Surrounding Variants

2 papers

NM_014140.4

p.R217S

c.651G>C

2 papers

NM_014140.4

p.R217S

c.651G>T

1 paper

NM_014140.4

p.G220A

c.659G>C

1 paper

NM_014140.4

p.G220G

c.660A>C

1 paper

NM_014140.4

p.V214insFs

c.642dupA

1 paper

NM_014140.4

p.R221I

c.662G>T

1 paper

NM_014140.4

p.L222F

c.664C>T

1 paper

NM_014140.4

p.S213T

c.638G>C

1 paper

NM_014140.4

p.L222_Q223insFs

c.666_667insA

1 paper

NM_014140.4

p.Q223fs

c.667_668fs

1 paper

NM_014140.4

p.Q224*

c.670C>T

1 paper

NM_014140.4

p.K225E

c.673A>G