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.M288Splc

c.862+1G>T

Surrounding Variants

3 papers

NM_014140.4

p.M288Splc

c.862+1G>A

2 papers

NM_014140.4

p.S280R

c.840C>A

1 paper

NM_014140.4

p.S280R

c.840C>G

1 paper

NM_014140.4

p.S280R

c.838A>C

2 papers

NM_014140.4

p.S280C

c.838A>T

14 papers

NM_014140.4

p.F279S

c.836T>C

1 paper

NM_014140.4

p.N278delFs

c.832delA

1 paper

NM_014140.4

p.K275M

c.824A>T

1 paper

NM_014140.4

p.D273_F279del7

c.817_836del21

1 paper

NM_014140.4

p.D271Splc

c.811+1G>T

1 paper

NM_014140.4

p.S267T

c.800G>C

1 paper

NM_014140.4

p.Y254H

c.760T>C