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

15 papers

NM_014140.4

p.E377Q

c.1129G>C

Surrounding Variants

1 paper

NM_014140.4

p.E377K

c.1129G>A

1 paper

NM_014140.4

p.L376L

c.1128G>A

5 papers

NM_014140.4

p.E378*

c.1132G>T

2 papers

NM_014140.4

p.H379Y

c.1135C>T

4 papers

NM_014140.4

p.H379P

c.1136A>C

1 paper

NM_014140.4

p.H379L

c.1136A>T

1 paper

NM_014140.4

p.S373S

c.1119C>T

1 paper

NM_014140.4

p.K381R

c.1142A>G

1 paper

NM_014140.4

p.L382fs

c.1144_1145fs

1 paper

NM_014140.4

p.L382insFs

c.1144_1145insT

2 papers

NM_014140.4

p.L382_I383delFs

c.1146_1147delAA

1 paper

NM_014140.4

p.K371T

c.1112A>C