Varaico: Literature-Extracted Genetic Variants

Gene:LEMD3
Variant:p.K587I

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
1 paper
NM_014319.5
p.K587I
c.1760A>T
Surrounding Variants
1 paper
NM_014319.5
p.D588V
c.1763A>T
1 paper
NM_014319.5
p.G586*
c.1756G>T
2 papers
NM_014319.5
p.N585fs
c.1753_1754fs
2 papers
NM_014319.5
p.N585insFs
c.1754dupA
1 paper
NM_014319.5
p.G573G
c.1719T>A
1 paper
NM_014319.5
p.E572Fs
c.1714delinsGTFs
1 paper
NM_014319.5
p.Y571Fs
c.1711delinsGTFs
1 paper
NM_014319.5
p.R592R
c.1776G>A
6 papers
NM_014319.5
p.E601*
c.1801G>T
1 paper
NM_014319.5
p.L611*
c.1832T>A
1 paper
NM_014319.5
p.L611*
c.1832T>G
1 paper
NM_014319.5
p.W621*
c.1862G>A
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