Varaico: Literature-Extracted Genetic Variants

Gene:LEMD3
Variant:p.R718insFs

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
3 papers
NM_014319.5
p.R718insFs
c.2154dupA
Surrounding Variants
1 paper
NM_014319.5
p.R718fs
c.2152_2153fs
1 paper
NM_014319.5
p.R709Splc
c.2127-3T>C
5 papers
NM_014319.5
p.R735*
c.2203C>T
1 paper
NM_014319.5
p.G739S
c.2215G>A
1 paper
NM_014319.5
p.D741_L743delFs
c.2221_2227del7
1 paper
NM_014319.5
p.D741fs
c.2221_2222fs
1 paper
NM_014319.5
p.K763*
c.2287A>T
2 papers
NM_014319.5
p.H698D
c.2092C>G
1 paper
NM_014319.5
p.P697A
c.2089C>G
1 paper
NM_014319.5
p.P692T
c.2074C>A
1 paper
NM_014319.5
p.Q691K
c.2071C>A
3 papers
NM_014319.5
p.R678*
c.2032C>T
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