Varaico: Literature-Extracted Genetic Variants

Gene:LMX1A
Variant:p.A63insFs

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.A63insFs
c.187_188insT
Surrounding Variants
1 paper
NM_177398.4
p.A63T
c.187G>A
1 paper
NM_177398.4
p.C62Y
c.185G>A
2 papers
NM_177398.4
p.Q61R
c.182A>G
1 paper
NM_177398.4
p.C59S
c.176G>C
1 paper
NM_177398.4
p.C59S
c.175T>A
1 paper
NM_177398.4
p.E67insFs
c.199_200insTC
1 paper
NM_177398.4
p.F74F
c.222C>T
1 paper
NM_177398.4
p.R49Q
c.146G>A
1 paper
NM_177398.4
p.L47L
c.139C>T
1 paper
NM_177398.4
p.D44V
c.131A>T
1 paper
NM_177398.4
p.C82S
c.244T>A
1 paper
NM_177398.4
p.C82S
c.245G>C
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