Varaico: Literature-Extracted Genetic Variants

Gene:INSM2
Variant:p.R495H

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.R495H
c.1484G>A
Surrounding Variants
1 paper
NM_032594.4
p.Q522P
c.1565A>C
1 paper
NM_032594.4
p.Q523K
c.1567C>A
1 paper
NM_032594.4
p.T533fs
c.1597_1598fs
1 paper
NM_032594.4
p.F535fs
c.1603_1604fs
1 paper
NM_032594.4
p.R542R
c.1626G>A
2 papers
NM_032594.4
p.H432L
c.1295A>T
1 paper
NM_032594.4
p.G415C
c.1243G>T
1 paper
NM_032594.4
p.P414L
c.1241C>T
1 paper
NM_032594.4
p.A375P
c.1123G>C
1 paper
NM_032594.4
p.A322A
c.966C>A
1 paper
NM_032594.4
p.A322T
c.964G>A
1 paper
NM_032594.4
p.P317fs
c.949_950fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."