Varaico: Literature-Extracted Genetic Variants

Gene:ROR1
Variant:p.C482G

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.C482G
c.1444T>G
Surrounding Variants
1 paper
NM_005012.4
p.K489Q
c.1465A>C
1 paper
NM_005012.4
p.G490S
c.1468G>A
1 paper
NM_005012.4
p.P495S
c.1483C>T
1 paper
NM_005012.4
p.E467insFs
c.1399_1400insA
2 papers
NM_005012.4
p.L502L
c.1504C>T
1 paper
NM_005012.4
p.T507I
c.1520C>T
1 paper
NM_005012.4
p.N513T
c.1538A>C
1 paper
NM_005012.4
p.P514R
c.1541C>G
7 papers
NM_005012.4
p.T518M
c.1553C>T
1 paper
NM_005012.4
p.M527L
c.1579A>C
1 paper
NM_005012.4
p.M527L
c.1579A>T
1 paper
NM_005012.4
p.C537F
c.1610G>T
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