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.F727C

c.2180T>G

Surrounding Variants

1 paper

NM_003601.4

p.R736Q

c.2207G>A

1 paper

NM_003601.4

p.Y742C

c.2225A>G

1 paper

NM_003601.4

p.A751A

c.2253T>C

1 paper

NM_003601.4

p.A759V

c.2276C>T

1 paper

NM_003601.4

p.R764*

c.2290C>T

1 paper

NM_003601.4

p.V771I

c.2311G>A

1 paper

NM_003601.4

p.Q775L

c.2324A>T

1 paper

NM_003601.4

p.R780C

c.2338C>T

1 paper

NM_003601.4

p.E721K

c.2161G>A

1 paper

NM_003601.4

p.G716R

c.2146G>A

1 paper

NM_003601.4

p.G716R

c.2146G>C

1 paper

NM_003601.4

p.M705I

c.2115G>A