Varaico: Literature-Extracted Genetic Variants

Gene:LMX1A

LMX1A

101 papers

RefSeq Summary

This gene encodes a homeodomain and LIM-domain containing protein. The encoded protein is a transcription factor that acts as a positive regulator of insulin gene transcription. This gene also plays a...

Pfam Domains

LIMaa 35–90UCSCLIM domain
LIMaa 94–152UCSCLIM domain
Homeodomainaa 196–252UCSCHomeodomain

Gene Aliases

HGNC Name

LIM homeobox transcription factor 1 alpha

HGNC Previous Symbol

LMX1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 138 variants
9 papers
NM_177398.4
p.C97S
c.289T>A
9 papers
NM_177398.4
p.C97S
c.290G>C
9 papers
NM_177398.4
p.V241L
c.721G>T
9 papers
NM_177398.4
p.V241L
c.721G>C
7 papers
NM_177398.4
p.R199G
c.595A>G
6 papers
NM_177398.4
p.R208*
c.622C>T
6 papers
NM_177398.4
p.I369T
c.1106T>C
4 papers
NM_177398.4
p.S23S
c.69G>C
4 papers
NM_177398.4
p.A229D
c.686C>A
4 papers
NM_177398.4
p.Q240R
c.719A>G
4 papers
NM_177398.4
p.V241M
c.721G>A
3 papers
NM_177398.4
p.P296insFs
c.887dupC
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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."