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.D182N

c.544G>A

Surrounding Variants

1 paper

NM_003601.4

p.K179T

c.536A>C

1 paper

NM_003601.4

p.G178S

c.532G>A

1 paper

NM_003601.4

p.K176K

c.528A>G

1 paper

NM_003601.4

p.G187G

c.561A>T

1 paper

NM_003601.4

p.W190*

c.569G>A

1 paper

NM_003601.4

p.W190*

c.570G>A

1 paper

NM_003601.4

p.S193S

c.579T>C

1 paper

NM_003601.4

p.Y195F

c.584A>T

1 paper

NM_003601.4

p.I199L

c.595A>C

1 paper

NM_003601.4

p.N200I

c.599A>T

1 paper

NM_003601.4

p.G201S

c.601G>A

3 papers

NM_003601.4

p.K211R

c.632A>G