Varaico: Literature-Extracted Genetic Variants

Gene:LMX1B
Variant:p.P198S

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
6 papers
NM_001174147.2
p.P198S
c.592C>T
Surrounding Variants
1 paper
NM_001174147.2
p.Q202insFs
c.604_605insC
1 paper
NM_001174147.2
p.G203_D211del0
c.609_632del24
1 paper
NM_001174147.2
p.E190K
c.568G>A
1 paper
NM_001174147.2
p.K188*
c.562A>T
1 paper
NM_001174147.2
p.G208A
c.623G>C
1 paper
NM_001174147.2
p.D211delFs
c.631delG
2 papers
NM_001174147.2
p.G210R
c.628G>A
2 papers
NM_001174147.2
p.G210R
c.628G>C
1 paper
NM_001174147.2
p.G210E
c.629G>A
2 papers
NM_001174147.2
p.D211fs
c.631_632fs
3 papers
NM_001174147.2
p.G213R
c.637G>C
1 paper
NM_001174147.2
p.K214fs
c.640_641fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."