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.E153E

c.459G>A

Surrounding Variants

1 paper

NM_014140.4

p.R155G

c.463A>G

1 paper

NM_014140.4

p.F156insFs

c.467dupT

1 paper

NM_014140.4

p.Q149*

c.445C>T

1 paper

NM_014140.4

p.G146S

c.436G>A

3 papers

NM_014140.4

p.T163N

c.488C>A

1 paper

NM_014140.4

p.L139fs

c.415_416fs

3 papers

NM_014140.4

p.L139fs

c.415_416fs

4 papers

NM_014140.4

p.L139delFs

c.415_416delTT

1 paper

NM_014140.4

p.P170S

c.508C>T

1 paper

NM_014140.4

p.P170L

c.509C>T

4 papers

NM_014140.4

p.Q137delFs

c.410delA

1 paper

NM_014140.4

p.Q137fs

c.409_410fs