Varaico: Literature-Extracted Genetic Variants

Gene:LMX1B
Variant:p.S242S

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
4 papers
NM_001174147.2
p.S242S
c.726G>C
Surrounding Variants
1 paper
NM_001174147.2
p.S242_K243insFs
c.726_727insAA
1 paper
NM_001174147.2
p.K243delFs
c.727_728delAA
1 paper
NM_001174147.2
p.K243fs
c.727_728fs
1 paper
NM_001174147.2
p.K243_P244insA
c.727_731ins3
1 paper
NM_001174147.2
p.S242*
c.725C>A
1 paper
NM_001174147.2
p.S242W
c.725C>G
1 paper
NM_001174147.2
p.S242fs
c.724_725fs
1 paper
NM_001174147.2
p.S241_S242delins
c.723_726delinsC
1 paper
NM_001174147.2
p.S241_K243delins
c.723_729delinsCAAC
1 paper
NM_001174147.2
p.P244fs
c.730_731fs
1 paper
NM_001174147.2
p.P244R
c.731C>G
1 paper
NM_001174147.2
p.S241P
c.721T>C
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