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.E873D

c.2619A>T

Surrounding Variants

1 paper

NM_003601.4

p.E873D

c.2619A>C

1 paper

NM_003601.4

p.A885Splc

c.2654-1G>T

2 papers

NM_003601.4

p.E893K

c.2677G>A

1 paper

NM_003601.4

p.Q903*

c.2707C>T

1 paper

NM_003601.4

p.I911I

c.2733T>C

1 paper

NM_003601.4

p.K924_I925Splc

c.2772+5T>C

1 paper

NM_003601.4

p.K834R

c.2501A>G

2 papers

NM_003601.4

p.N808N

c.2424T>C

1 paper

NM_003601.4

p.N803D

c.2407A>G

1 paper

NM_003601.4

p.P801S

c.2401C>T

1 paper

NM_003601.4

p.L935V

c.2803C>G

1 paper

NM_003601.4

p.E951K

c.2851G>A