Varaico: Literature-Extracted Genetic Variants

Gene:LMX1B
Variant:p.R221delFs

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.R221delFs
c.661delC
Surrounding Variants
1 paper
NM_001174147.2
p.R221fs
c.661_662fs
4 papers
NM_001174147.2
p.R221*
c.661C>T
2 papers
NM_001174147.2
p.P219P
c.657C>G
1 paper
NM_001174147.2
p.P222fs
c.664_665fs
1 paper
NM_001174147.2
p.P222S
c.664C>T
4 papers
NM_001174147.2
p.P219A
c.655C>G
8 papers
NM_001174147.2
p.R223W
c.667C>T
1 paper
NM_001174147.2
p.R218W
c.652A>T
11 papers
NM_001174147.2
p.R223Q
c.668G>A
1 paper
NM_001174147.2
p.R223P
c.668G>C
1 paper
NM_001174147.2
p.R217Q
c.650G>A
1 paper
NM_001174147.2
p.L226insFs
c.676_677insC
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