Varaico: Literature-Extracted Genetic Variants

Gene:LMX1A
Variant:p.S23S

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
Selected Variant
4 papers
NM_177398.4
p.S23S
c.69G>C
Surrounding Variants
1 paper
NM_177398.4
p.S23L
c.68C>T
1 paper
NM_177398.4
p.S20S
c.60C>G
1 paper
NM_177398.4
p.I15M
c.45C>G
1 paper
NM_177398.4
p.A14P
c.40G>C
1 paper
NM_177398.4
p.S13N
c.38G>A
1 paper
NM_177398.4
p.E8G
c.23A>G
1 paper
NM_177398.4
p.L2insFs
c.6dupG
1 paper
NM_177398.4
p.K32R
c.95A>G
1 paper
NM_177398.4
p.Q39delFs
c.115delG
1 paper
NM_177398.4
p.R40Q
c.119G>A
1 paper
NM_177398.4
p.D44V
c.131A>T
1 paper
NM_177398.4
p.L47L
c.139C>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."