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.F343_A345delFs

c.1027_1034del8

Surrounding Variants

6 papers

NM_014140.4

p.Y342*

c.1026C>A

5 papers

NM_014140.4

p.Y342*

c.1026C>G

1 paper

NM_014140.4

p.F343fs

c.1027_1028fs

1 paper

NM_014140.4

p.E344Q

c.1030G>C

2 papers

NM_014140.4

p.R340_A341ins7

c.1018_1022ins21

1 paper

NM_014140.4

p.R340G

c.1018A>G

1 paper

NM_014140.4

p.S339C

c.1016C>G

1 paper

NM_014140.4

p.L337P

c.1010T>C

1 paper

NM_014140.4

p.R334R

c.1000C>A

5 papers

NM_014140.4

p.R334*

c.1000C>T

1 paper

NM_014140.4

p.Q351*

c.1051C>T

1 paper

NM_014140.4

p.D352insFs

c.1054dupG