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.L495*

c.1484T>A

Surrounding Variants

1 paper

NM_003601.4

p.L495*

c.1484T>G

1 paper

NM_003601.4

p.E467K

c.1399G>A

1 paper

NM_003601.4

p.P460S

c.1378C>T

1 paper

NM_003601.4

p.L453M

c.1357T>A

1 paper

NM_003601.4

p.L435F

c.1303C>T

2 papers

NM_003601.4

p.I434_N436del0

c.1301_1306del6

1 paper

NM_003601.4

p.I432T

c.1295T>C

1 paper

NM_003601.4

p.K430K

c.1290G>A

1 paper

NM_003601.4

p.M429R

c.1286T>G

1 paper

NM_003601.4

p.W423Splc

c.1268+5G>T

1 paper

NM_003601.4

p.E422*

c.1264G>T

1 paper

NM_003601.4

p.K418R

c.1253A>G