Varaico: Literature-Extracted Genetic Variants

Gene:LEMD3
Variant:p.A72V

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.A72V
c.215C>T
Surrounding Variants
1 paper
NM_014319.5
p.T71P
c.211A>C
1 paper
NM_014319.5
p.N70T
c.209A>C
1 paper
NM_014319.5
p.N68Y
c.202A>T
1 paper
NM_014319.5
p.N67fs
c.199_200fs
1 paper
NM_014319.5
p.N67delFs
c.200_201delAT
1 paper
NM_014319.5
p.G80_G88del0
c.240_263del24
1 paper
NM_014319.5
p.S66fs
c.196_197fs
1 paper
NM_014319.5
p.P81_G88del8
c.241_263del24
1 paper
NM_014319.5
p.P81_M89del0
c.242_265del24
1 paper
NM_014319.5
p.H54N
c.160C>A
1 paper
NM_014319.5
p.V94fs
c.280_281fs
1 paper
NM_014319.5
p.V94V
c.282C>G
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