Varaico: Literature-Extracted Genetic Variants

Gene:LMX1B
Variant:p.W266S

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.W266S
c.797G>C
Surrounding Variants
1 paper
NM_001174147.2
p.W266G
c.796T>G
1 paper
NM_001174147.2
p.F267I
c.799T>A
1 paper
NM_001174147.2
p.F267L
c.799T>C
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
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.F267L
c.801T>A
1 paper
NM_001174147.2
p.F267L
c.801T>G
1 paper
NM_001174147.2
p.Q264P
c.791A>C
1 paper
NM_001174147.2
p.Q268H
c.804G>C
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