Varaico: Literature-Extracted Genetic Variants

Gene:LMBR1
Variant:p.K386_I387Splc

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.K386_I387Splc
c.1159-2A>G
Surrounding Variants
1 paper
NM_022458.4
p.S399delFs
c.1196delG
1 paper
NM_022458.4
p.A400delFs
c.1199delG
1 paper
NM_022458.4
p.G365G
c.1095C>T
1 paper
NM_022458.4
p.V364V
c.1092C>T
1 paper
NM_022458.4
p.I352delFs
c.1056delG
1 paper
NM_022458.4
p.V346L
c.1036G>T
1 paper
NM_022458.4
p.V346L
c.1036G>C
1 paper
NM_022458.4
p.S341F
c.1022C>T
1 paper
NM_022458.4
p.N337_A338delFs
c.1011_1014del4
1 paper
NM_022458.4
p.G332_N337insFs
c.995_1011dup17
1 paper
NM_022458.4
p.L310V
c.928C>G
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