Varaico: Literature-Extracted Genetic Variants

Gene:LMX1B
Variant:p.L252P

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.L252P
c.755T>C
Surrounding Variants
1 paper
NM_001174147.2
p.A253V
c.758C>T
10 papers
NM_001174147.2
p.R249Q
c.746G>A
2 papers
NM_001174147.2
p.R249P
c.746G>C
5 papers
NM_001174147.2
p.R249G
c.745C>G
2 papers
NM_001174147.2
p.R249*
c.745C>T
1 paper
NM_001174147.2
p.E255D
c.765G>C
1 paper
NM_001174147.2
p.E255D
c.765G>T
2 papers
NM_001174147.2
p.T256R
c.767C>G
1 paper
NM_001174147.2
p.T256M
c.767C>T
1 paper
NM_001174147.2
p.K247_V248Splc
c.742-1G>A
1 paper
NM_001174147.2
p.K247_V248Splc
c.742-1G>C
3 papers
NM_001174147.2
p.K247_V248Splc
c.742-2A>G
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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."