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.I677I

c.2031T>C

Surrounding Variants

1 paper

NM_003601.4

p.F662L

c.1984T>C

1 paper

NM_003601.4

p.G657insFs

c.1971dupA

1 paper

NM_003601.4

p.E649K

c.1945G>A

1 paper

NM_003601.4

p.K647T

c.1940A>C

1 paper

NM_003601.4

p.K647R

c.1940A>G

1 paper

NM_003601.4

p.K647Q

c.1939A>C

1 paper

NM_003601.4

p.T685A

c.2053A>G

1 paper

NM_003601.4

p.T704I

c.2111C>T

1 paper

NM_003601.4

p.M705I

c.2115G>A

1 paper

NM_003601.4

p.M705I

c.2115G>C

1 paper

NM_003601.4

p.M705I

c.2115G>T

1 paper

NM_003601.4

p.G716R

c.2146G>A