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.L290L

c.870T>C

Surrounding Variants

1 paper

NM_003601.4

p.Y287H

c.859T>C

1 paper

NM_003601.4

p.E309K

c.925G>A

1 paper

NM_003601.4

p.F270V

c.808T>G

2 papers

NM_003601.4

p.K314Q

c.940A>C

1 paper

NM_003601.4

p.R267_A268Splc

c.802-2A>G

1 paper

NM_003601.4

p.K319del1

c.955_956delAAG

1 paper

NM_003601.4

p.P339S

c.1015C>T

1 paper

NM_003601.4

p.F353S

c.1058T>C

1 paper

NM_003601.4

p.R267T

c.800G>C

1 paper

NM_003601.4

p.Q266*

c.796C>T

1 paper

NM_003601.4

p.R256G

c.766A>G

1 paper

NM_003601.4

p.P253S

c.757C>T