Varaico: Literature-Extracted Genetic Variants

Gene:LMX1B
Variant:p.C140Y

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
2 papers
NM_001174147.2
p.C140Y
c.419G>A
Surrounding Variants
1 paper
NM_001174147.2
p.C140F
c.419G>T
1 paper
NM_001174147.2
p.C140R
c.418T>C
1 paper
NM_001174147.2
p.C140delFs
c.419delG
1 paper
NM_001174147.2
p.L138R
c.413T>G
5 papers
NM_001174147.2
p.C142W
c.426C>G
1 paper
NM_001174147.2
p.H137Q
c.411C>A
1 paper
NM_001174147.2
p.H137Q
c.411C>G
1 paper
NM_001174147.2
p.C143S
c.427T>A
1 paper
NM_001174147.2
p.H137R
c.410A>G
1 paper
NM_001174147.2
p.C143S
c.428G>C
1 paper
NM_001174147.2
p.Y136*
c.408C>A
1 paper
NM_001174147.2
p.Y136*
c.408C>G
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