Varaico: Literature-Extracted Genetic Variants

Gene:ROR1
Variant:p.R103Q

ROR1

147 papers

RefSeq Summary

This gene encodes a receptor tyrosine kinase-like orphan receptor that modulates neurite growth in the central nervous system. The encoded protein is a glycosylated type I membrane protein that belong...

Pfam Domains

I-setaa 58–148UCSCImmunoglobulin I-set domain
Fzaa 170–289UCSCFz domain
Kringleaa 313–391UCSCKringle domain
PK_Tyr_Ser-Thraa 473–746UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

receptor tyrosine kinase like orphan receptor 1

HGNC Previous Symbol

NTRKR1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005012.4
p.R103Q
c.308G>A
Surrounding Variants
1 paper
NM_005012.4
p.R104R
c.312G>A
1 paper
NM_005012.4
p.V99A
c.296T>C
1 paper
NM_005012.4
p.F92L
c.276C>A
1 paper
NM_005012.4
p.F92L
c.276C>G
1 paper
NM_005012.4
p.F92L
c.274T>C
1 paper
NM_005012.4
p.R90C
c.268C>T
1 paper
NM_005012.4
p.R117fs
c.349_350fs
2 papers
NM_005012.4
p.T69M
c.206C>T
1 paper
NM_005012.4
p.V139L
c.415G>C
1 paper
NM_005012.4
p.V145A
c.434T>C
4 papers
NM_005012.4
p.L60L
c.180C>T
1 paper
NM_005012.4
p.T59S
c.176C>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."