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.I13F

c.37A>T

Surrounding Variants

1 paper

NM_014140.4

p.K12Q

c.34A>C

1 paper

NM_014140.4

p.K11K

c.33A>G

1 paper

NM_014140.4

p.K11R

c.32A>G

13 papers

NM_014140.4

p.R17*

c.49C>T

1 paper

NM_014140.4

p.A20S

c.58G>T

1 paper

NM_014140.4

p.L21L

c.61C>T

2 papers

NM_014140.4

p.L3delins

c.9delinsA

1 paper

NM_014140.4

p.L3_P4insFs

c.9_10insC

1 paper

NM_014140.4

p.R23C

c.67C>T

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