Varaico: Literature-Extracted Genetic Variants

Gene:LHX1
Variant:p.H131Y

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
Selected Variant
1 paper
NM_005568.5
p.H131Y
c.391C>T
Surrounding Variants
1 paper
NM_005568.5
p.E127_N128ins1
c.381_382insATC
1 paper
NM_005568.5
p.K126N
c.378A>C
1 paper
NM_005568.5
p.K126N
c.378A>T
1 paper
NM_005568.5
p.V124I
c.370G>A
1 paper
NM_005568.5
p.S122T
c.365G>C
1 paper
NM_005568.5
p.S120C
c.358A>T
1 paper
NM_005568.5
p.I106T
c.317T>C
1 paper
NM_005568.5
p.L104fs
c.310_311fs
1 paper
NM_005568.5
p.L104insFs
c.310_311ins7
1 paper
NM_005568.5
p.G101V
c.302G>T
1 paper
NM_005568.5
p.T134_T135insFs
c.402_403insC
1 paper
NM_005568.5
p.Q97*
c.289C>T
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