Varaico: Literature-Extracted Genetic Variants

Gene:LMBR1
Variant:p.R144*

LMBR1

77 papers

RefSeq Summary

This gene encodes a member of the LMBR1-like membrane protein family. Another member of this protein family has been shown to be a lipocalin transmembrane receptor. A highly conserved, cis-acting regu...

Pfam Domains

LMBR1aa 20–284UCSCLMBR1-like membrane protein
LMBR1aa 257–450UCSCLMBR1-like membrane protein

Gene Aliases

HGNC Name

limb development membrane protein 1

HGNC Alias Symbols

ACHP; FLJ11665; ZRS

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_022458.4
p.R144*
c.430C>T
Surrounding Variants
1 paper
NM_022458.4
p.I143N
c.428T>A
2 papers
NM_022458.4
p.L157del1
c.469_471delAAG
1 paper
NM_022458.4
p.D184Splc
c.551-1G>A
1 paper
NM_022458.4
p.V211F
c.631G>T
2 papers
NM_022458.4
p.R215H
c.644G>A
1 paper
NM_022458.4
p.T228A
c.682A>G
1 paper
NM_022458.4
p.Q236insFs
c.706dupC
1 paper
NM_022458.4
p.A246V
c.737C>T
1 paper
NM_022458.4
p.Q248*
c.742C>T
1 paper
NM_022458.4
p.R250P
c.749G>C
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