Varaico: Literature-Extracted Genetic Variants

Gene:LHX5
Variant:p.R340M

LHX5

33 papers

RefSeq Summary

This gene encodes a protein belonging to a large protein family, members of which carry the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein may function as a transcriptiona...

Pfam Domains

LIMaa 5–60UCSCLIM domain
LIMaa 64–123UCSCLIM domain
Homeodomainaa 181–237UCSCHomeodomain

Gene Aliases

HGNC Name

LIM homeobox 5

HGNC Alias Name

LIM/homeobox protein Lhx5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_022363.3
p.R340M
c.1019G>T
Surrounding Variants
1 paper
NM_022363.3
p.H362L
c.1085A>T
1 paper
NM_022363.3
p.P300L
c.899C>T
1 paper
NM_022363.3
p.G299R
c.895G>C
1 paper
NM_022363.3
p.D266G
c.797A>G
1 paper
NM_022363.3
p.P260S
c.778C>T
1 paper
NM_022363.3
p.K196R
c.587A>G
2 papers
NM_022363.3
p.R181C
c.541C>T
1 paper
NM_022363.3
p.S176P
c.526T>C
1 paper
NM_022363.3
p.N175Y
c.523A>T
3 papers
NM_022363.3
p.T156M
c.467C>T
1 paper
NM_022363.3
p.T91N
c.272C>A
1 paper
NM_022363.3
p.H86N
c.256C>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."