Varaico: Literature-Extracted Genetic Variants

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

1–12 of 161 variants

7 papers

NM_005012.4

p.T518M

c.1553C>T

4 papers

NM_005012.4

p.L60L

c.180C>T

4 papers

NM_005012.4

p.A390A

c.1170G>T

2 papers

NM_005012.4

p.T69M

c.206C>T

2 papers

NM_005012.4

p.A156T

c.466G>A

2 papers

NM_005012.4

p.L285H

c.854T>A

2 papers

NM_005012.4

p.D320E

c.960C>A

2 papers

NM_005012.4

p.D320E

c.960C>G

2 papers

NM_005012.4

p.N364H

c.1090A>C

2 papers

NM_005012.4

p.R429Q

c.1286G>A

2 papers

NM_005012.4

p.L502L

c.1504C>T

2 papers

NM_005012.4

p.G590R

c.1768G>A