Varaico: Literature-Extracted Genetic Variants

Gene:LMX1B
Variant:p.E239K

LMX1B

240 papers

RefSeq Summary

This gene encodes a member of LIM-homeodomain family of proteins containing two N-terminal zinc-binding LIM domains, 1 homeodomain, and a C-terminal glutamine-rich domain. It functions as a transcript...

Pfam Domains

LIMaa 56–111UCSCLIM domain
LIMaa 115–173UCSCLIM domain
Homeodomainaa 220–276UCSCHomeodomain

Gene Aliases

HGNC Name

LIM homeobox transcription factor 1 beta

HGNC Previous Symbol

NPS1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001174147.2
p.E239K
c.715G>A
Surrounding Variants
2 papers
NM_001174147.2
p.F238S
c.713T>C
2 papers
NM_001174147.2
p.F238insFs
c.713_714insA
2 papers
NM_001174147.2
p.V240D
c.719T>A
2 papers
NM_001174147.2
p.F238del1
c.712_714delTTC
1 paper
NM_001174147.2
p.S242del1
c.724_725delTCG
1 paper
NM_001174147.2
p.S237P
c.709T>C
1 paper
NM_001174147.2
p.S241P
c.721T>C
1 paper
NM_001174147.2
p.A236V
c.707C>T
1 paper
NM_001174147.2
p.S241_S242delins
c.723_726delinsC
1 paper
NM_001174147.2
p.S241_K243delins
c.723_729delinsCAAC
5 papers
NM_001174147.2
p.A236P
c.706G>C
1 paper
NM_001174147.2
p.A236S
c.706G>T
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