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

3 papers

NM_003601.4

p.K211R

c.632A>G

Surrounding Variants

1 paper

NM_003601.4

p.G220A

c.659G>C

1 paper

NM_003601.4

p.M222V

c.664A>G

1 paper

NM_003601.4

p.M222I

c.666G>A

1 paper

NM_003601.4

p.P229S

c.685C>T

1 paper

NM_003601.4

p.N243S

c.728A>G

1 paper

NM_003601.4

p.V252L

c.754G>C

1 paper

NM_003601.4

p.P253S

c.757C>T

1 paper

NM_003601.4

p.R256G

c.766A>G

1 paper

NM_003601.4

p.Q266*

c.796C>T

1 paper

NM_003601.4

p.R267T

c.800G>C

1 paper

NM_003601.4

p.G201S

c.601G>A

1 paper

NM_003601.4

p.N200I

c.599A>T