Varaico: Literature-Extracted Genetic Variants

Gene:ROR2
Variant:p.A600V

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
1 paper
NM_004560.4
p.A600V
c.1799C>T
Surrounding Variants
2 papers
NM_004560.4
p.D580_F592delFs
c.1740_1774del35
1 paper
NM_004560.4
p.D591fs
c.1771_1772fs
1 paper
NM_004560.4
p.D591N
c.1771G>A
1 paper
NM_004560.4
p.A586V
c.1757C>T
1 paper
NM_004560.4
p.D615N
c.1843G>A
1 paper
NM_004560.4
p.T582T
c.1746G>A
1 paper
NM_004560.4
p.R619C
c.1855C>T
1 paper
NM_004560.4
p.R619S
c.1855C>A
1 paper
NM_004560.4
p.R581H
c.1742G>A
2 papers
NM_004560.4
p.D580fs
c.1738_1739fs
12 papers
NM_004560.4
p.N620K
c.1860T>G
12 papers
NM_004560.4
p.N620K
c.1860T>A
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