Varaico: Literature-Extracted Genetic Variants

Gene:LMX1B

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
1–12 of 339 variants
31 papers
NM_001174147.2
p.R246Q
c.737G>A
12 papers
NM_001174147.2
p.R246P
c.737G>C
11 papers
NM_001174147.2
p.R223Q
c.668G>A
10 papers
NM_001174147.2
p.R249Q
c.746G>A
8 papers
NM_001174147.2
p.R223W
c.667C>T
8 papers
NM_001174147.2
p.V265D
c.794T>A
7 papers
NM_001174147.2
p.V265L
c.793G>C
7 papers
NM_001174147.2
p.A278V
c.833C>T
6 papers
NM_001174147.2
p.P198S
c.592C>T
6 papers
NM_001174147.2
p.L226F
c.676C>T
5 papers
NM_001174147.2
p.C142W
c.426C>G
5 papers
NM_001174147.2
p.R231*
c.691C>T
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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."