Varaico: Literature-Extracted Genetic Variants

Gene:ROR2
Variant:p.S758*

ROR2

261 papers

RefSeq Summary

The protein encoded by this gene is a receptor protein tyrosine kinase and type I transmembrane protein that belongs to the ROR subfamily of cell surface receptors. The protein may be involved in the...

Pfam Domains

I-setaa 62–152UCSCImmunoglobulin I-set domain
Fzaa 174–293UCSCFz domain
Kringleaa 316–394UCSCKringle domain
Kringleaa 316–394UCSCKringle domain
PK_Tyr_Ser-Thraa 473–746UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

receptor tyrosine kinase like orphan receptor 2

HGNC Previous Symbols

NTRKR2; BDB; BDB1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_004560.4
p.S758*
c.2273C>A
Surrounding Variants
1 paper
NM_004560.4
p.S758L
c.2273C>T
10 papers
NM_004560.4
p.Q760*
c.2278C>T
1 paper
NM_004560.4
p.Q760L
c.2279A>T
15 papers
NM_004560.4
p.Y755*
c.2265C>G
15 papers
NM_004560.4
p.Y755*
c.2265C>A
4 papers
NM_004560.4
p.S762L
c.2285C>T
1 paper
NM_004560.4
p.S753delFs
c.2257delA
1 paper
NM_004560.4
p.G750fs
c.2248_2249fs
12 papers
NM_004560.4
p.G750delFs
c.2249delC
1 paper
NM_004560.4
p.G750fs
c.2248_2249fs
24 papers
NM_004560.4
p.W749*
c.2247G>A
24 papers
NM_004560.4
p.W749*
c.2246G>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."