Varaico: Literature-Extracted Genetic Variants

Gene:LHX3
Variant:p.P99S

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.P99S
c.295C>T
Surrounding Variants
1 paper
NM_178138.6
p.P98insFs
c.293_294insC
1 paper
NM_178138.6
p.P99L
c.296C>T
1 paper
NM_014564.5
p.I102_P103insFs
c.306_307insAG
1 paper
NM_178138.6
p.G96Fs
c.287_288delinsTCCTFs
1 paper
NM_178138.6
p.Q101delFs
c.301_302delTG
1 paper
NM_178138.6
p.V102M
c.304G>A
2 papers
NM_014564.5
p.G101fs
c.301_302fs
NM_178138.6
p.G96fs
c.286_287fs
1 paper
NM_178138.6
p.V102_V103insFs
c.306_307insAG
1 paper
NM_178138.6
p.V103insFs
c.307_308insAG
1 paper
NM_178138.6
p.V103E
c.308T>A
1 paper
NM_178138.6
p.R104fs
c.310_311fs
1 paper
NM_178138.6
p.C93F
c.278G>T
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