Varaico: Literature-Extracted Genetic Variants

Gene:ROR1
Variant:p.S393*

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.S393*
c.1178C>A
Surrounding Variants
1 paper
NM_005012.4
p.S393*
c.1178C>G
1 paper
NM_005012.4
p.L405M
c.1213C>A
1 paper
NM_005012.4
p.L408V
c.1222C>G
1 paper
NM_005012.4
p.P415P
c.1245C>T
1 paper
NM_005012.4
p.A419S
c.1255G>T
1 paper
NM_005012.4
p.L420S
c.1259T>C
1 paper
NM_005012.4
p.C428F
c.1283G>T
1 paper
NM_005012.4
p.R429W
c.1285C>T
2 papers
NM_005012.4
p.R429Q
c.1286G>A
1 paper
NM_005012.4
p.S434L
c.1301C>T
1 paper
NM_005012.4
p.V451V
c.1353A>G
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