Varaico: Literature-Extracted Genetic Variants

Gene:SMARCD1
Variant:p.E217E

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.E217E
c.651G>A
Surrounding Variants
1 paper
NM_003076.5
p.D218E
c.654T>A
1 paper
NM_003076.5
p.D218E
c.654T>G
1 paper
NM_003076.5
p.G213A
c.638G>C
1 paper
NM_003076.5
p.E208G
c.623A>G
1 paper
NM_003076.5
p.T203T
c.609G>C
1 paper
NM_003076.5
p.T203T
c.609G>T
1 paper
NM_003076.5
p.T203M
c.608C>T
1 paper
NM_003076.5
p.E201K
c.601G>A
1 paper
NM_003076.5
p.D199N
c.595G>A
1 paper
NM_003076.5
p.D196D
c.588T>C
1 paper
NM_003076.5
p.A193A
c.579T>C
1 paper
NM_003076.5
p.P192S
c.574C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."