Varaico: Literature-Extracted Genetic Variants

Gene:LEMD3
Variant:p.R191insFs

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.R191insFs
c.573dupG
Surrounding Variants
1 paper
NM_014319.5
p.T183insFs
c.549dupT
1 paper
NM_014319.5
p.R200_R201del2
c.598_602del6
2 papers
NM_014319.5
p.P202L
c.605C>T
1 paper
NM_014319.5
p.G204R
c.610G>C
1 paper
NM_014319.5
p.G215R
c.643G>A
1 paper
NM_014319.5
p.V217L
c.649G>C
1 paper
NM_014319.5
p.V217L
c.649G>T
2 papers
NM_014319.5
p.S164L
c.491C>T
1 paper
NM_014319.5
p.G157G
c.471C>T
1 paper
NM_014319.5
p.G156S
c.466G>A
1 paper
NM_014319.5
p.G156R
c.466G>C
1 paper
NM_014319.5
p.E228K
c.682G>A
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