Varaico: Literature-Extracted Genetic Variants

Gene:LMX1A
Variant:p.H336insFs

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.H336insFs
c.1007_1008insC
Surrounding Variants
1 paper
NM_177398.4
p.D337H
c.1009G>C
1 paper
NM_177398.4
p.L334H
c.1001T>A
1 paper
NM_177398.4
p.L338delFs
c.1012delG
1 paper
NM_177398.4
p.L338fs
c.1012_1013fs
1 paper
NM_177398.4
p.E332K
c.994G>A
1 paper
NM_177398.4
p.D342H
c.1024G>C
1 paper
NM_177398.4
p.G330D
c.989G>A
1 paper
NM_177398.4
p.L345F
c.1033C>T
1 paper
NM_177398.4
p.S346C
c.1036A>T
3 papers
NM_177398.4
p.D350D
c.1050T>C
1 paper
NM_177398.4
p.L353L
c.1059A>G
6 papers
NM_177398.4
p.I369T
c.1106T>C
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