Varaico: Literature-Extracted Genetic Variants

Gene:LMX1B
Variant:p.D185N

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.D185N
c.553G>A
Surrounding Variants
1 paper
NM_001174147.2
p.S186Fs
c.556delinsGGFs
2 papers
NM_001174147.2
p.V187M
c.559G>A
1 paper
NM_001174147.2
p.E183fs
c.547_548fs
1 paper
NM_001174147.2
p.D182E
c.546C>A
1 paper
NM_001174147.2
p.D182_E183insFs
c.546_547ins4
1 paper
NM_001174147.2
p.D182E
c.546C>G
2 papers
NM_001174147.2
p.D182N
c.544G>A
2 papers
NM_001174147.2
p.P181S
c.541C>T
1 paper
NM_001174147.2
p.D168del1
c.502_504delGAC
1 paper
NM_001174147.2
p.C165*
c.495C>A
1 paper
NM_001174147.2
p.C165W
c.495C>G
1 paper
NM_001174147.2
p.C165delFs
c.495delC
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