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.E619K

c.1855G>A

Surrounding Variants

1 paper

NM_003601.4

p.E619Q

c.1855G>C

1 paper

NM_003601.4

p.L625F

c.1873C>T

1 paper

NM_003601.4

p.Q634L

c.1901A>T

1 paper

NM_003601.4

p.R603T

c.1808G>C

2 papers

NM_003601.4

p.R592Q

c.1775G>A

1 paper

NM_003601.4

p.R592*

c.1774C>T

1 paper

NM_003601.4

p.L576M

c.1726T>A

1 paper

NM_003601.4

p.A571P

c.1711G>C

1 paper

NM_003601.4

p.L568L

c.1704T>C

1 paper

NM_003601.4

p.A561D

c.1682C>A

1 paper

NM_003601.4

p.A561T

c.1681G>A

1 paper

NM_003601.4

p.R560R

c.1680T>A