Varaico: Literature-Extracted Genetic Variants

Gene:SMARCD2
Variant:p.I362fs

SMARCD2

64 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 234–306UCSCSWIB/MDM2 domain

Gene Aliases

HGNC Name

SWI/SNF related BAF chromatin remodeling complex subunit D2

HGNC Alias Symbols

BAF60B; Rsc6p; CRACD2; PRO2451

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_001098426.2
p.I362fs
c.1084_1085fs
Surrounding Variants
1 paper
NM_001098426.2
p.I362N
c.1085T>A
1 paper
NM_001098426.2
p.F363Y
c.1088T>A
1 paper
NM_001098426.2
p.M375L
c.1123A>T
1 paper
NM_001098426.2
p.M375L
c.1123A>C
1 paper
NM_001098426.2
p.L381P
c.1142T>C
1 paper
NM_001098426.2
p.H383N
c.1147C>A
1 paper
NM_001098426.2
p.P386P
c.1158C>G
1 paper
NM_001098426.2
p.I387N
c.1160T>A
1 paper
NM_001098426.2
p.V392I
c.1174G>A
3 papers
NM_001098426.2
p.S394fs
c.1180_1181fs
6 papers
NM_001098426.2
p.S394Splc
c.1181+1G>A
2 papers
NM_001098426.2
p.Q361delFs
c.1081delG
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