Varaico: Literature-Extracted Genetic Variants

Gene:LMX1B
Variant:p.A278V

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
7 papers
NM_001174147.2
p.A278V
c.833C>T
Surrounding Variants
1 paper
NM_001174147.2
p.A278A
c.834G>A
1 paper
NM_001174147.2
p.L277fs
c.829_830fs
1 paper
NM_001174147.2
p.R280_Q283delFs
c.838_847del10
1 paper
NM_001174147.2
p.R280fs
c.838_839fs
1 paper
NM_001174147.2
p.L277delFs
c.829delC
1 paper
NM_001174147.2
p.L277_Q283del0
c.830_847del18
1 paper
NM_001174147.2
p.Q285ins0
c.853_855dupCAG
1 paper
NM_001174147.2
p.Q282*
c.844C>T
1 paper
NM_001174147.2
p.Q282R
c.845A>G
1 paper
NM_001174147.2
p.K273_M274Splc
c.820-1G>A
1 paper
NM_001174147.2
p.Q284K
c.850C>A
1 paper
NM_001174147.2
p.N289H
c.865A>C
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