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

Selected Variant

2 papers

NM_005012.4

p.L285H

c.854T>A

Surrounding Variants

1 paper

NM_005012.4

p.E289G

c.866A>G

1 paper

NM_005012.4

p.N295K

c.885C>A

1 paper

NM_005012.4

p.N295K

c.885C>G

1 paper

NM_005012.4

p.A304T

c.910G>A

1 paper

NM_005012.4

p.D305H

c.913G>C

1 paper

NM_005012.4

p.D250H

c.748G>C

1 paper

NM_005012.4

p.R249S

c.745C>A

1 paper

NM_005012.4

p.D246D

c.738C>T

2 papers

NM_005012.4

p.D320E

c.960C>A

2 papers

NM_005012.4

p.D320E

c.960C>G

1 paper

NM_005012.4

p.V327V

c.981G>C

1 paper

NM_005012.4

p.R332C

c.994C>T