Varaico: Literature-Extracted Genetic Variants

Gene:LMX1B
Variant:p.E160G

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.E160G
c.479A>G
Surrounding Variants
1 paper
NM_001174147.2
p.Q162ins1
c.485_486insACT
1 paper
NM_001174147.2
p.Q162insFs
c.485_486ins8
2 papers
NM_001174147.2
p.V157M
c.469G>A
1 paper
NM_001174147.2
p.F156C
c.467T>G
1 paper
NM_001174147.2
p.C165delFs
c.495delC
1 paper
NM_001174147.2
p.C165*
c.495C>A
1 paper
NM_001174147.2
p.C165W
c.495C>G
2 papers
NM_001174147.2
p.E155K
c.463G>A
1 paper
NM_001174147.2
p.D154N
c.460G>A
1 paper
NM_001174147.2
p.G153D
c.458G>A
1 paper
NM_001174147.2
p.D168del1
c.502_504delGAC
1 paper
NM_001174147.2
p.K152R
c.455A>G
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