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.N134S

c.401A>G

Surrounding Variants

1 paper

NM_003601.4

p.L136L

c.406C>T

1 paper

NM_003601.4

p.E131E

c.393G>A

1 paper

NM_003601.4

p.V138I

c.412G>A

1 paper

NM_003601.4

p.D130V

c.389A>T

1 paper

NM_003601.4

p.V138A

c.413T>C

1 paper

NM_003601.4

p.G139G

c.417C>T

1 paper

NM_003601.4

p.K128N

c.384A>C

1 paper

NM_003601.4

p.K128N

c.384A>T

1 paper

NM_003601.4

p.I127M

c.381A>G

1 paper

NM_003601.4

p.P122R

c.365C>G

1 paper

NM_003601.4

p.K119R

c.356A>G

1 paper

NM_003601.4

p.P114L

c.341C>T