Varaico: Literature-Extracted Genetic Variants

Gene:LMX1B
Variant:p.V263A

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
1 paper
NM_001174147.2
p.V263A
c.788T>C
Surrounding Variants
1 paper
NM_001174147.2
p.V263D
c.788T>A
1 paper
NM_001174147.2
p.Q264P
c.791A>C
1 paper
NM_001174147.2
p.V262M
c.784G>A
1 paper
NM_001174147.2
p.V262fs
c.784_785fs
1 paper
NM_001174147.2
p.V262fs
c.784_785fs
7 papers
NM_001174147.2
p.V265L
c.793G>C
3 papers
NM_001174147.2
p.V265F
c.793G>T
1 paper
NM_001174147.2
p.R261H
c.782G>A
1 paper
NM_001174147.2
p.R261insFs
c.783dupC
8 papers
NM_001174147.2
p.V265D
c.794T>A
2 papers
NM_001174147.2
p.V265A
c.794T>C
1 paper
NM_001174147.2
p.V265G
c.794T>G
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