Varaico: Literature-Extracted Genetic Variants

Gene:LMX1A
Variant:p.R199G

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
7 papers
NM_177398.4
p.R199G
c.595A>G
Surrounding Variants
1 paper
NM_177398.4
p.P198L
c.593C>T
1 paper
NM_177398.4
p.P198S
c.592C>T
1 paper
NM_177398.4
p.L202F
c.606G>T
1 paper
NM_177398.4
p.L202F
c.606G>C
1 paper
NM_177398.4
p.R194C
c.580C>T
1 paper
NM_177398.4
p.K193insFs
c.578dupA
1 paper
NM_177398.4
p.H192R
c.575A>G
1 paper
NM_177398.4
p.D191N
c.571G>A
6 papers
NM_177398.4
p.R208*
c.622C>T
1 paper
NM_177398.4
p.E188insFs
c.564dupA
1 paper
NM_177398.4
p.G189R
c.565G>C
1 paper
NM_177398.4
p.G184E
c.551G>A
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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."