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.F92F

c.276C>T

Surrounding Variants

1 paper

NM_003601.4

p.R91*

c.271A>T

1 paper

NM_003601.4

p.Y94Y

c.282T>C

1 paper

NM_003601.4

p.K97K

c.291G>A

1 paper

NM_003601.4

p.D87H

c.259G>C

1 paper

NM_003601.4

p.T86N

c.257C>A

1 paper

NM_003601.4

p.F102C

c.305T>G

1 paper

NM_003601.4

p.A109A

c.327T>C

3 papers

NM_003601.4

p.A110D

c.329C>A

1 paper

NM_003601.4

p.K112R

c.335A>G

1 paper

NM_003601.4

p.P114L

c.341C>T

1 paper

NM_003601.4

p.K119R

c.356A>G

1 paper

NM_003601.4

p.P122R

c.365C>G