Varaico: Literature-Extracted Genetic Variants

Gene:ROR2
Variant:p.S557L

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.S557L
c.1670C>T
Surrounding Variants
5 papers
NM_004560.4
p.G559S
c.1675G>A
1 paper
NM_004560.4
p.L561F
c.1681C>T
1 paper
NM_004560.4
p.E563K
c.1687G>A
1 paper
NM_004560.4
p.V566A
c.1697T>C
2 papers
NM_004560.4
p.P548S
c.1642C>T
1 paper
NM_004560.4
p.L540_T544delFs
c.1619_1631del13
1 paper
NM_004560.4
p.V542M
c.1624G>A
1 paper
NM_004560.4
p.G541delFs
c.1623delG
1 paper
NM_004560.4
p.V536_G541delFs
c.1608_1623del16
2 papers
NM_004560.4
p.V574L
c.1720G>T
2 papers
NM_004560.4
p.V574L
c.1720G>C
1 paper
NM_004560.4
p.V574M
c.1720G>A
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