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.P534L

c.1601C>T

Surrounding Variants

1 paper

NM_003601.4

p.C519C

c.1557C>T

1 paper

NM_003601.4

p.L512F

c.1536G>C

1 paper

NM_003601.4

p.L512F

c.1536G>T

1 paper

NM_003601.4

p.V511L

c.1531G>C

1 paper

NM_003601.4

p.R510T

c.1529G>C

1 paper

NM_003601.4

p.Q507*

c.1519C>T

1 paper

NM_003601.4

p.F505S

c.1514T>C

1 paper

NM_003601.4

p.S541P

c.1621T>C

1 paper

NM_003601.4

p.R501Q

c.1502G>A

1 paper

NM_003601.4

p.N543S

c.1628A>G

1 paper

NM_003601.4

p.N546S

c.1637A>G

1 paper

NM_003601.4

p.T559M

c.1676C>T