Varaico: Literature-Extracted Genetic Variants

Gene:LMX1A
Variant:p.Q111delFs

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
2 papers
NM_177398.4
p.Q111delFs
c.331delG
Surrounding Variants
1 paper
NM_177398.4
p.Q111fs
c.331_332fs
1 paper
NM_177398.4
p.A110G
c.329C>G
1 paper
NM_177398.4
p.R109W
c.325C>T
2 papers
NM_177398.4
p.L117L
c.349C>T
1 paper
NM_177398.4
p.N104S
c.311A>G
1 paper
NM_177398.4
p.P103S
c.307C>T
1 paper
NM_177398.4
p.A102T
c.304G>A
1 paper
NM_177398.4
p.C122Y
c.365G>A
1 paper
NM_177398.4
p.C123F
c.368G>T
1 paper
NM_177398.4
p.C123Y
c.368G>A
1 paper
NM_177398.4
p.E99K
c.295G>A
1 paper
NM_177398.4
p.C97W
c.291C>G
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