Varaico: Literature-Extracted Genetic Variants

Gene:LMX1B
Variant:p.E147E

LMX1B

240 papers

RefSeq Summary

This gene encodes a member of LIM-homeodomain family of proteins containing two N-terminal zinc-binding LIM domains, 1 homeodomain, and a C-terminal glutamine-rich domain. It functions as a transcript...

Pfam Domains

LIMaa 56–111UCSCLIM domain
LIMaa 115–173UCSCLIM domain
Homeodomainaa 220–276UCSCHomeodomain

Gene Aliases

HGNC Name

LIM homeobox transcription factor 1 beta

HGNC Previous Symbol

NPS1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001174147.2
p.E147E
c.441A>G
Surrounding Variants
1 paper
NM_001174147.2
p.R148Q
c.443G>A
1 paper
NM_001174147.2
p.R148P
c.443G>C
2 papers
NM_001174147.2
p.C146Y
c.437G>A
1 paper
NM_001174147.2
p.C146S
c.437G>C
1 paper
NM_001174147.2
p.C146S
c.436T>A
1 paper
NM_001174147.2
p.C146fs
c.436_437fs
1 paper
NM_001174147.2
p.C146delFs
c.436delT
3 papers
NM_001174147.2
p.V145M
c.433G>A
1 paper
NM_001174147.2
p.C144*
c.432C>A
1 paper
NM_001174147.2
p.R151C
c.451C>T
1 paper
NM_001174147.2
p.C143S
c.428G>C
1 paper
NM_001174147.2
p.K152R
c.455A>G
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