Varaico: Literature-Extracted Genetic Variants

Gene:ROR1
Variant:p.E562D

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.E562D
c.1686G>C
Surrounding Variants
1 paper
NM_005012.4
p.E562D
c.1686G>T
1 paper
NM_005012.4
p.D559N
c.1675G>A
1 paper
NM_005012.4
p.R567G
c.1699A>G
1 paper
NM_005012.4
p.M550L
c.1648A>C
1 paper
NM_005012.4
p.M550L
c.1648A>T
1 paper
NM_005012.4
p.S576R
c.1726A>C
1 paper
NM_005012.4
p.S576R
c.1728C>A
1 paper
NM_005012.4
p.S576R
c.1728C>G
1 paper
NM_005012.4
p.E579*
c.1735G>T
1 paper
NM_005012.4
p.D580fs
c.1738_1739fs
1 paper
NM_005012.4
p.D580_F592delFs
c.1740_1774del35
1 paper
NM_005012.4
p.V542I
c.1624G>A
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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."