Varaico: Literature-Extracted Genetic Variants

Gene:LMX1B
Variant:p.L226insFs

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.L226insFs
c.676_677insC
Surrounding Variants
1 paper
NM_001174147.2
p.L226V
c.676C>G
6 papers
NM_001174147.2
p.L226F
c.676C>T
2 papers
NM_001174147.2
p.L226R
c.677T>G
1 paper
NM_001174147.2
p.T227delFs
c.679_680delAC
1 paper
NM_001174147.2
p.L226L
c.678C>T
1 paper
NM_001174147.2
p.T227fs
c.679_680fs
11 papers
NM_001174147.2
p.R223Q
c.668G>A
1 paper
NM_001174147.2
p.R223P
c.668G>C
8 papers
NM_001174147.2
p.R223W
c.667C>T
1 paper
NM_001174147.2
p.T228ins1
c.683_684insTCA
1 paper
NM_001174147.2
p.P222fs
c.664_665fs
1 paper
NM_001174147.2
p.P222S
c.664C>T
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