Varaico: Literature-Extracted Genetic Variants

Gene:LHX1

LHX1

118 papers

RefSeq Summary

This gene encodes a member of a large protein family which contains the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein is a transcription factor important for the developm...

Pfam Domains

LIMaa 4–59UCSCLIM domain
LIMaa 63–122UCSCLIM domain
Homeodomainaa 181–237UCSCHomeodomain

Gene Aliases

HGNC Name

LIM homeobox 1

HGNC Alias Symbols

LIM-1; LIM1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 109 variants
4 papers
NM_005568.5
p.R264G
c.790C>G
2 papers
NM_005568.5
p.C4S
c.10T>A
2 papers
NM_005568.5
p.C4S
c.11G>C
2 papers
NM_005568.5
p.R9insFs
c.25dupA
2 papers
NM_005568.5
p.K204N
c.612G>C
2 papers
NM_005568.5
p.K204N
c.612G>T
2 papers
NM_005568.5
p.N273insFs
c.817dupA
2 papers
NM_005568.5
p.P312H
c.935C>A
1 paper
NM_005568.5
p.M1insFs
c.2dupT
1 paper
NM_005568.5
p.M1V
c.1A>G
1 paper
NM_005568.5
p.M1R
c.2T>G
1 paper
NM_005568.5
p.M1I
c.3G>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."