Varaico: Literature-Extracted Genetic Variants

Gene:SMARCD1
Variant:p.N84fs

SMARCD1

120 papers

RefSeq Summary

The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by...

Pfam Domains

SWIBaa 293–365UCSCSWIB/MDM2 domain

Gene Aliases

HGNC Name

SWI/SNF related BAF chromatin remodeling complex subunit D1

HGNC Alias Symbols

BAF60A; Rsc6p; CRACD1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003076.5
p.N84fs
c.250_251fs
Surrounding Variants
1 paper
NM_003076.5
p.G82delFs
c.244delG
1 paper
NM_003076.5
p.V87L
c.259G>C
1 paper
NM_003076.5
p.P79P
c.237T>C
1 paper
NM_003076.5
p.G90S
c.268G>A
1 paper
NM_003076.5
p.G90R
c.268G>C
1 paper
NM_003076.5
p.G77_P79delFs
c.231_237del7
1 paper
NM_003076.5
p.M76I
c.228G>T
1 paper
NM_003076.5
p.M76L
c.226A>T
1 paper
NM_003076.5
p.S75F
c.224C>T
1 paper
NM_003076.5
p.P74P
c.222T>C
1 paper
NM_003076.5
p.Q72Q
c.216G>A
1 paper
NM_003076.5
p.D97H
c.289G>C
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