Varaico: Literature-Extracted Genetic Variants

Gene:LEMD3
Variant:p.R332_N333insTC

LEMD3

145 papers

RefSeq Summary

This locus encodes a LEM domain-containing protein. The encoded protein functions to antagonize transforming growth factor-beta signaling at the inner nuclear membrane. Two transcript variants encodin...

Pfam Domains

LEMaa 8–54UCSCLEM domain
MSCaa 520–750UCSCMan1-Src1p-C-terminal domain

Gene Aliases

HGNC Name

LEM domain containing 3

HGNC Alias Symbol

MAN1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_014319.5
p.R332_N333insTC
c.994_998ins6
Surrounding Variants
1 paper
NM_014319.5
p.A338T
c.1012G>A
1 paper
NM_014319.5
p.A325V
c.974C>T
1 paper
NM_014319.5
p.A323E
c.968C>A
1 paper
NM_014319.5
p.G345fs
c.1033_1034fs
1 paper
NM_014319.5
p.G345Fs
c.1033_1035delinsCFs
1 paper
NM_014319.5
p.M318K
c.953T>A
1 paper
NM_014319.5
p.M318V
c.952A>G
1 paper
NM_014319.5
p.E307D
c.921G>C
1 paper
NM_014319.5
p.E307insFs
c.920dupA
1 paper
NM_014319.5
p.Y357*
c.1071C>A
1 paper
NM_014319.5
p.Y357*
c.1071C>G
1 paper
NM_014319.5
p.G304C
c.910G>T
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