Varaico: Literature-Extracted Genetic Variants

Gene:LMX1B
Variant:p.E120fs

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.E120fs
c.358_359fs
Surrounding Variants
1 paper
NM_001174147.2
p.M119delFs
c.356_357delTG
1 paper
NM_001174147.2
p.C118Y
c.353G>A
1 paper
NM_001174147.2
p.C118F
c.353G>T
1 paper
NM_001174147.2
p.C118R
c.352T>C
1 paper
NM_001174147.2
p.G117G
c.351C>G
4 papers
NM_001174147.2
p.G117S
c.349G>A
1 paper
NM_001174147.2
p.S116T
c.347G>C
2 papers
NM_001174147.2
p.C115F
c.344G>T
1 paper
NM_001174147.2
p.T125_F127delins
c.373_380delinsGATCTTCGTGATGCGGG
1 paper
NM_001174147.2
p.C115R
c.343T>C
1 paper
NM_001174147.2
p.A113T
c.337G>A
1 paper
NM_001174147.2
p.R130W
c.388C>T
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