Varaico: Literature-Extracted Genetic Variants

Gene:LMO1
Variant:p.E60K

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
1 paper
NM_002315.3
p.E60K
c.178G>A
Surrounding Variants
1 paper
NM_002315.3
p.E60*
c.178G>T
1 paper
NM_002315.3
p.C54S
c.161G>C
1 paper
NM_002315.3
p.C54S
c.160T>A
5 papers
NM_002315.3
p.A52A
c.156C>G
1 paper
NM_002315.3
p.L71F
c.211C>T
1 paper
NM_002315.3
p.D47N
c.139G>A
1 paper
NM_002315.3
p.E46*
c.136G>T
2 papers
NM_002315.3
p.R75*
c.223C>T
2 papers
NM_002315.3
p.R75Q
c.224G>A
1 paper
NM_002315.3
p.R76H
c.227G>A
1 paper
NM_002315.3
p.K38_K42delFs
c.112_124del13
1 paper
NM_002315.3
p.A39T
c.115G>A
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