Varaico: Literature-Extracted Genetic Variants

Gene:SMARCD1
Variant:p.Q178R

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.Q178R
c.533A>G
Surrounding Variants
1 paper
NM_003076.5
p.K179fs
c.535_536fs
1 paper
NM_003076.5
p.K179T
c.536A>C
1 paper
NM_003076.5
p.R180W
c.538C>T
1 paper
NM_003076.5
p.K181fs
c.541_542fs
2 papers
NM_003076.5
p.R183Q
c.548G>A
1 paper
NM_003076.5
p.I186L
c.556A>C
1 paper
NM_003076.5
p.F190S
c.569T>C
1 paper
NM_003076.5
p.N191N
c.573T>C
1 paper
NM_003076.5
p.P192S
c.574C>T
1 paper
NM_003076.5
p.A193A
c.579T>C
1 paper
NM_003076.5
p.D196D
c.588T>C
1 paper
NM_003076.5
p.D199N
c.595G>A
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