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.A127P

c.379G>C

Surrounding Variants

1 paper

NM_014140.4

p.A127A

c.381A>G

1 paper

NM_014140.4

p.P124P

c.372T>G

1 paper

NM_014140.4

p.I122F

c.364A>T

1 paper

NM_014140.4

p.E132G

c.395A>G

1 paper

NM_014140.4

p.L119fs

c.355_356fs

1 paper

NM_014140.4

p.A118V

c.353C>T

1 paper

NM_014140.4

p.Q136*

c.406C>T

4 papers

NM_014140.4

p.Q137delFs

c.410delA

1 paper

NM_014140.4

p.Q137fs

c.409_410fs

4 papers

NM_014140.4

p.L139delFs

c.415_416delTT

1 paper

NM_014140.4

p.L139fs

c.415_416fs

3 papers

NM_014140.4

p.L139fs

c.415_416fs