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

2 papers

NM_014140.4

p.L3delins

c.9delinsA

Surrounding Variants

1 paper

NM_014140.4

p.L3_P4insFs

c.9_10insC

1 paper

NM_014140.4

p.L3insFs

c.7dupT

1 paper

NM_014140.4

p.S2S

c.6C>G

1 paper

NM_014140.4

p.S2_L3insT

c.4_8ins3

3 papers

NM_014140.4

p.M1I

c.3G>A

1 paper

NM_014140.4

p.M1I

c.3G>C

1 paper

NM_014140.4

p.M1I

c.3G>T

1 paper

NM_014140.4

p.M1T

c.2T>C

8 papers

NM_014140.4

p.M1insFs

c.2dupT

1 paper

NM_014140.4

p.M1V

c.1A>G

1 paper

NM_014140.4

p.M1L

c.1A>T

1 paper

NM_014140.4

p.K11R

c.32A>G