Varaico: Literature-Extracted Genetic Variants

Gene:LMX1A
Variant:p.C122Y

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
1 paper
NM_177398.4
p.C122Y
c.365G>A
Surrounding Variants
1 paper
NM_177398.4
p.C123F
c.368G>T
1 paper
NM_177398.4
p.C123Y
c.368G>A
2 papers
NM_177398.4
p.E126K
c.376G>A
1 paper
NM_177398.4
p.E126G
c.377A>G
1 paper
NM_177398.4
p.R127*
c.379C>T
2 papers
NM_177398.4
p.R127P
c.380G>C
1 paper
NM_177398.4
p.R127Q
c.380G>A
2 papers
NM_177398.4
p.L117L
c.349C>T
1 paper
NM_177398.4
p.G132R
c.394G>C
2 papers
NM_177398.4
p.Q111delFs
c.331delG
1 paper
NM_177398.4
p.Q111fs
c.331_332fs
1 paper
NM_177398.4
p.A110G
c.329C>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."