Varaico: Literature-Extracted Genetic Variants

Gene:LHX3
Variant:p.Y227F

LHX3

169 papers

RefSeq Summary

This gene encodes a member of a large family of proteins which carry the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein is a transcription factor that is required for pitu...

Pfam Domains

LIMaa 20–75UCSCLIM domain
LIMaa 79–138UCSCLIM domain
Homeodomainaa 147–203UCSCHomeodomain

Gene Aliases

HGNC Name

LIM homeobox 3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_178138.6
p.Y227F
c.680A>T
Surrounding Variants
1 paper
NM_178138.6
p.R229R
c.687C>G
8 papers
NM_014564.5
p.W229*
c.687G>A
NM_178138.6
p.W224*
c.672G>A
8 papers
NM_014564.5
p.W229*
c.686G>A
NM_178138.6
p.W224*
c.671G>A
1 paper
NM_014564.5
p.R228S
c.682C>A
1 paper
NM_178138.6
p.R221Q
c.662G>A
1 paper
NM_178138.6
p.S234A
c.700T>G
1 paper
NM_178138.6
p.R221_G236del16
c.661_707del48
1 paper
NM_178138.6
p.S238A
c.712T>G
4 papers
NM_178138.6
p.K216E
c.646A>G
1 paper
NM_014564.5
p.L220M
c.658C>A
1 paper
NM_014564.5
p.R219T
c.656G>C
1 paper
NM_178138.6
p.A210delFs
c.629delG
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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."