Varaico: Literature-Extracted Genetic Variants

Gene:SMARCD1
Variant:p.V278M

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
3 papers
NM_003076.5
p.V278M
c.832G>A
Surrounding Variants
1 paper
NM_003076.5
p.D277N
c.829G>A
1 paper
NM_003076.5
p.D277H
c.829G>C
1 paper
NM_003076.5
p.G276A
c.827G>C
1 paper
NM_003076.5
p.P275S
c.823C>T
1 paper
NM_003076.5
p.R281Q
c.842G>A
1 paper
NM_003076.5
p.R274Q
c.821G>A
1 paper
NM_003076.5
p.R274W
c.820C>T
1 paper
NM_003076.5
p.D289H
c.865G>C
1 paper
NM_003076.5
p.E266G
c.797A>G
1 paper
NM_003076.5
p.A262D
c.785C>A
2 papers
NM_003076.5
p.A262T
c.784G>A
1 paper
NM_003076.5
p.E257_W258Splc
c.772-3T>C
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