Varaico: Literature-Extracted Genetic Variants

Gene:INSM2
Variant:p.R51R

INSM2

41 papers

Pfam Domains

zf-C2H2aa 291–313UCSCZinc finger, C2H2 type
zf-C2H2aa 426–448UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

INSM transcriptional repressor 2

HGNC Alias Symbols

IA-6; Mlt1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032594.4
p.R51R
c.153G>C
Surrounding Variants
1 paper
NM_032594.4
p.P55delFs
c.165delC
1 paper
NM_032594.4
p.P55S
c.163C>T
1 paper
NM_032594.4
p.T56N
c.167C>A
1 paper
NM_032594.4
p.R57Q
c.170G>A
1 paper
NM_032594.4
p.E67Q
c.199G>C
1 paper
NM_032594.4
p.R24H
c.71G>A
2 papers
NM_032594.4
p.E23K
c.67G>A
1 paper
NM_032594.4
p.S131*
c.392C>A
1 paper
NM_032594.4
p.G140delFs
c.418delG
1 paper
NM_032594.4
p.G141fs
c.421_422fs
1 paper
NM_032594.4
p.F172L
c.514T>C
1 paper
NM_032594.4
p.F172L
c.516C>A
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