Varaico: Literature-Extracted Genetic Variants

Gene:LBHD1
Variant:p.Q47E

LBHD1

15 papers

RefSeq Summary

This gene shares three exons in common with another gene, chromosome 11 open reading frame 98 (GeneID:102288414), but the encoded protein uses a reading frame that is different from that of the chromo...

Pfam Domains

Lbhaa 1–128UCSCCardiac transcription factor regulator, Developmental protein

Gene Aliases

HGNC Name

LBH domain containing 1

HGNC Previous Symbol

C11orf48

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024099.5
p.Q47E
c.139C>G
Surrounding Variants
1 paper
NM_024099.5
p.R37G
c.109A>G
1 paper
NM_024099.5
p.L58Q
c.173T>A
1 paper
NM_024099.5
p.S60S
c.180T>A
1 paper
NM_024099.5
p.S65A
c.193T>G
1 paper
NM_024099.5
p.E89A
c.266A>C
1 paper
NM_024099.5
p.E91Q
c.271G>C
1 paper
NM_024099.5
p.W106fs
c.316_317fs
1 paper
NM_024099.5
p.E146D
c.438A>T
1 paper
NM_024099.5
p.E146D
c.438A>C
1 paper
NM_024099.5
p.S170F
c.509C>T
1 paper
NM_024099.5
p.E179D
c.537G>T
1 paper
NM_024099.5
p.E179D
c.537G>C
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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."