Varaico: Literature-Extracted Genetic Variants

Gene:LHX3
Variant:p.K50*

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_014564.5
p.K50*
c.148A>T
Surrounding Variants
1 paper
NM_178138.6
p.K45N
c.135G>T
1 paper
NM_178138.6
p.K45N
c.135G>C
1 paper
NM_178138.6
p.I43I
c.129C>T
2 papers
NM_178138.6
p.I43V
c.127A>G
1 paper
NM_178138.6
p.I38_F42delFs
c.112_124del13
1 paper
NM_178138.6
p.R49C
c.145C>T
1 paper
NM_014564.5
p.D45V
c.134A>T
1 paper
NM_178138.6
p.W51S
c.152G>C
1 paper
NM_178138.6
p.H50_W51delFs
c.150_151delAG
1 paper
NM_014564.5
p.I43V
c.127A>G
1 paper
NM_178138.6
p.Q36_H37ins0
c.108_110dupGCA
1 paper
NM_178138.6
p.K54E
c.160A>G
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