Varaico: Literature-Extracted Genetic Variants

Gene:LEMD3
Variant:p.P366delFs

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.P366delFs
c.1097_1098delCT
Surrounding Variants
1 paper
NM_014319.5
p.P366fs
c.1096_1097fs
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.D380N
c.1138G>A
1 paper
NM_014319.5
p.D380H
c.1138G>C
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.N390S
c.1169A>G
1 paper
NM_014319.5
p.A338T
c.1012G>A
1 paper
NM_014319.5
p.G395fs
c.1183_1184fs
4 papers
NM_014319.5
p.G395insFs
c.1185dupT
4 papers
NM_014319.5
p.R332_N333insTC
c.994_998ins6
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."