Varaico: Literature-Extracted Genetic Variants

Gene:LMBRD1
Variant:p.K515_G516del2

LMBRD1

141 papers

RefSeq Summary

This gene encodes a lysosomal membrane protein that may be involved in the transport and metabolism of cobalamin. This protein also interacts with the large form of the hepatitis delta antigen and may...

Pfam Domains

LMBR1aa 14–297UCSCLMBR1-like membrane protein

Gene Aliases

HGNC Name

LMBR1 domain containing 1

HGNC Previous Symbol

C6orf209

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_018368.4
p.K515_G516del2
c.1543_1547del6
Surrounding Variants
1 paper
NM_018368.4
p.S512S
c.1536C>T
1 paper
NM_018368.4
p.S531delFs
c.1591delT
1 paper
NM_018368.4
p.S531fs
c.1591_1592fs
1 paper
NM_018368.4
p.W488*
c.1464G>A
1 paper
NM_018368.4
p.W488*
c.1463G>A
1 paper
NM_018368.4
p.T480A
c.1438A>G
1 paper
NM_018368.4
p.V477I
c.1429G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."