Varaico: Literature-Extracted Genetic Variants

Gene:LMO1
Variant:p.A52A

LMO1

70 papers

RefSeq Summary

This locus encodes a transcriptional regulator that contains two cysteine-rich LIM domains but lacks a DNA-binding domain. LIM domains may play a role in protein interactions; thus the encoded protein...

Pfam Domains

LIMaa 24–82UCSCLIM domain
LIMaa 88–146UCSCLIM domain

Gene Aliases

HGNC Name

LIM domain only 1

HGNC Previous Symbol

RBTN1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_002315.3
p.A52A
c.156C>G
Surrounding Variants
1 paper
NM_002315.3
p.C54S
c.160T>A
1 paper
NM_002315.3
p.C54S
c.161G>C
1 paper
NM_002315.3
p.D47N
c.139G>A
1 paper
NM_002315.3
p.E46*
c.136G>T
1 paper
NM_002315.3
p.E60*
c.178G>T
1 paper
NM_002315.3
p.E60K
c.178G>A
1 paper
NM_002315.3
p.K38_K42delFs
c.112_124del13
1 paper
NM_002315.3
p.A39T
c.115G>A
1 paper
NM_002315.3
p.K38*
c.112A>T
1 paper
NM_002315.3
p.L37Fs
c.111delinsATGFs
1 paper
NM_002315.3
p.L36Fs
c.108delinsATGFs
1 paper
NM_002315.3
p.L36V
c.106C>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."