Varaico: Literature-Extracted Genetic Variants

Gene:LEPROT
Variant:p.M22I

LEPROT

12 papers

RefSeq Summary

LEPROT is associated with the Golgi complex and endosomes and has a role in cell surface expression of growth hormone receptor (GHR; MIM 600946) and leptin receptor (OBR, or LEPR; MIM 601007), thereby...

Pfam Domains

Vps55aa 7–124UCSCVacuolar protein sorting 55

Gene Aliases

HGNC Name

leptin receptor overlapping transcript

HGNC Alias Symbols

OBRGRP; OB-RGRP; VPS55; FLJ90360

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017526.5
p.M22I
c.66G>C
Surrounding Variants
1 paper
NM_017526.5
p.M22I
c.66G>A
1 paper
NM_017526.5
p.M22I
c.66G>T
1 paper
NM_017526.5
p.G14V
c.41G>T
1 paper
NM_017526.5
p.F12L
c.36C>A
1 paper
NM_017526.5
p.F12L
c.36C>G
1 paper
NM_017526.5
p.F12L
c.34T>C
1 paper
NM_017526.5
p.V8insFs
c.23dupT
1 paper
NM_017526.5
p.V32F
c.94G>T
1 paper
NM_017526.5
p.R90H
c.269G>A
1 paper
NM_017526.5
p.A92V
c.275C>T
1 paper
NM_017526.5
p.V93G
c.278T>G
1 paper
NM_017526.5
p.C99Y
c.296G>A
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