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.L845fs

c.2533_2534fs

Surrounding Variants

1 paper

NM_014140.4

p.L845delFs

c.2533_2534delCT

1 paper

NM_014140.4

p.L845Q

c.2534T>A

1 paper

NM_014140.4

p.Q847*

c.2539C>T

1 paper

NM_014140.4

p.W843Splc

c.2529-4A>G

36 papers

NM_014140.4

p.E848*

c.2542G>T

1 paper

NM_014140.4

p.K849N

c.2547G>C

1 paper

NM_014140.4

p.K849N

c.2547G>T

1 paper

NM_014140.4

p.K851*

c.2551A>T

1 paper

NM_014140.4

p.A854delFs

c.2562delA

1 paper

NM_014140.4

p.E855K

c.2563G>A

1 paper

NM_014140.4

p.E855fs

c.2563_2564fs

2 papers

NM_014140.4

p.G857R

c.2569G>A