Varaico: Literature-Extracted Genetic Variants

SMARCA5

131 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

SNF2-rel_domaa 183–462UCSCSNF2-related domain

Helicase_Caa 483–597UCSCHelicase conserved C-terminal domain

HANDaa 743–841UCSCHAND

SLIDEaa 898–1012UCSCSLIDE

Gene Aliases

HGNC Name

SNF2 related chromatin remodeling ATPase 5

HGNC Alias Symbols

hSNF2H; hISWI; ISWI

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003601.4

p.D399Y

c.1195G>T

Surrounding Variants

1 paper

NM_003601.4

p.K402E

c.1204A>G

1 paper

NM_003601.4

p.R395*

c.1183C>T

1 paper

NM_003601.4

p.S403N

c.1208G>A

1 paper

NM_003601.4

p.P405L

c.1214C>T

1 paper

NM_003601.4

p.L392P

c.1175T>C

1 paper

NM_003601.4

p.L392V

c.1174C>G

1 paper

NM_003601.4

p.K407R

c.1220A>G

1 paper

NM_003601.4

p.P390S

c.1168C>T

1 paper

NM_003601.4

p.R389H

c.1166G>A

1 paper

NM_003601.4

p.V410L

c.1228G>T

1 paper

NM_003601.4

p.G415D

c.1244G>A

1 paper

NM_003601.4

p.K418R

c.1253A>G