Varaico: Literature-Extracted Genetic Variants

Gene:LMX1A
Variant:p.T295S

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.T295S
c.883A>T
Surrounding Variants
1 paper
NM_177398.4
p.T295P
c.883A>C
1 paper
NM_177398.4
p.T295S
c.884C>G
1 paper
NM_177398.4
p.M287_L293delFs
c.859_877del19
3 papers
NM_177398.4
p.P296insFs
c.887dupC
3 papers
NM_177398.4
p.Q297fs
c.889_890fs
1 paper
NM_177398.4
p.L293V
c.877C>G
1 paper
NM_177398.4
p.A292S
c.874G>T
1 paper
NM_177398.4
p.E303K
c.907G>A
1 paper
NM_177398.4
p.M287fs
c.859_860fs
1 paper
NM_177398.4
p.E303G
c.908A>G
1 paper
NM_177398.4
p.E303D
c.909G>C
1 paper
NM_177398.4
p.Q304K
c.910C>A
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