Varaico: Literature-Extracted Genetic Variants

Gene:LMBR1
Variant:p.G107Splc

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.G107Splc
c.320-24C>T
Surrounding Variants
2 papers
NM_022458.4
p.L108S
c.323T>C
1 paper
NM_022458.4
p.L114P
c.341T>C
1 paper
NM_022458.4
p.S116fs
c.346_347fs
1 paper
NM_022458.4
p.S116delFs
c.346delA
1 paper
NM_022458.4
p.G135V
c.404G>T
5 papers
NM_022458.4
p.G135A
c.404G>C
10 papers
NM_022458.4
p.G135D
c.404G>A
1 paper
NM_022458.4
p.F136Y
c.407T>A
1 paper
NM_022458.4
p.K141_G142Splc
c.423+4695T>C
1 paper
NM_022458.4
p.K141_G142Splc
c.423+4808T>C
1 paper
NM_022458.4
p.K141_G142Splc
c.423+4842T>C
1 paper
NM_022458.4
p.K141_G142Splc
c.423+4847T>G
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