Varaico: Literature-Extracted Genetic Variants

Gene:LHX1
Variant:p.P332R

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.P332R
c.995C>G
Surrounding Variants
1 paper
NM_005568.5
p.P336insFs
c.1007_1008insC
1 paper
NM_005568.5
p.P336R
c.1007C>G
1 paper
NM_005568.5
p.R342W
c.1024C>T
1 paper
NM_005568.5
p.T322T
c.966G>A
1 paper
NM_005568.5
p.S317F
c.950C>T
2 papers
NM_005568.5
p.P312H
c.935C>A
1 paper
NM_005568.5
p.S354L
c.1061C>T
1 paper
NM_005568.5
p.D310_L311ins7
c.928_932ins21
1 paper
NM_005568.5
p.L365Q
c.1094T>A
1 paper
NM_005568.5
p.H366delFs
c.1098delC
1 paper
NM_005568.5
p.A370T
c.1108G>A
1 paper
NM_005568.5
p.Y286H
c.856T>C
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