Varaico: Literature-Extracted Genetic Variants

Gene:LEMD3
Variant:p.E33D

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.E33D
c.99G>T
Surrounding Variants
1 paper
NM_014319.5
p.E33D
c.99G>C
1 paper
NM_014319.5
p.V38L
c.112G>C
1 paper
NM_014319.5
p.G29R
c.85G>A
1 paper
NM_014319.5
p.S27Y
c.80C>A
1 paper
NM_014319.5
p.K41E
c.121A>G
1 paper
NM_014319.5
p.Q20E
c.58C>G
1 paper
NM_014319.5
p.H54N
c.160C>A
1 paper
NM_014319.5
p.Q11H
c.33G>C
1 paper
NM_014319.5
p.Q11H
c.33G>T
1 paper
NM_014319.5
p.S7W
c.20C>G
1 paper
NM_014319.5
p.A4A
c.12A>C
1 paper
NM_014319.5
p.A3G
c.8C>G
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