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

2 papers

NM_003601.4

p.S50R

c.148A>C

Surrounding Variants

1 paper

NM_003601.4

p.A49A

c.147C>G

2 papers

NM_003601.4

p.S50R

c.150C>A

2 papers

NM_003601.4

p.S50R

c.150C>G

2 papers

NM_003601.4

p.S50S

c.150C>T

1 paper

NM_003601.4

p.A48A

c.144G>A

1 paper

NM_003601.4

p.P53P

c.159C>G

1 paper

NM_003601.4

p.D55G

c.164A>G

1 paper

NM_003601.4

p.A44A

c.132G>A

1 paper

NM_003601.4

p.Q43*

c.127C>T

1 paper

NM_003601.4

p.A42A

c.126G>T

1 paper

NM_003601.4

p.V40V

c.120C>A

1 paper

NM_003601.4

p.G39S

c.115G>A