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

1–12 of 203 variants

3 papers

NM_003601.4

p.A110D

c.329C>A

3 papers

NM_003601.4

p.K211R

c.632A>G

2 papers

NM_003601.4

p.S50R

c.148A>C

2 papers

NM_003601.4

p.S50R

c.150C>A

2 papers

NM_003601.4

p.S50R

c.150C>G

2 papers

NM_003601.4

p.S50S

c.150C>T

2 papers

NM_003601.4

p.K314Q

c.940A>C

2 papers

NM_003601.4

p.I434_N436del0

c.1301_1306del6

2 papers

NM_003601.4

p.R560C

c.1678C>T

2 papers

NM_003601.4

p.R592Q

c.1775G>A

2 papers

NM_003601.4

p.N808N

c.2424T>C

2 papers

NM_003601.4

p.E893K

c.2677G>A