Varaico: Literature-Extracted Genetic Variants

Gene:LMX1B
Variant:p.E255D

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.E255D
c.765G>T
Surrounding Variants
1 paper
NM_001174147.2
p.E255D
c.765G>C
2 papers
NM_001174147.2
p.T256R
c.767C>G
1 paper
NM_001174147.2
p.T256M
c.767C>T
1 paper
NM_001174147.2
p.A253V
c.758C>T
1 paper
NM_001174147.2
p.L258F
c.772C>T
1 paper
NM_001174147.2
p.L258_S259delFs
c.774_775delCA
3 papers
NM_001174147.2
p.S259delFs
c.775_776delAG
3 papers
NM_001174147.2
p.S259fs
c.775_776fs
1 paper
NM_001174147.2
p.S259fs
c.775_776fs
1 paper
NM_001174147.2
p.S259_R261delFs
c.776_783del8
1 paper
NM_001174147.2
p.L252P
c.755T>C
1 paper
NM_001174147.2
p.V260E
c.779T>A
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