Varaico: Literature-Extracted Genetic Variants

CRLF1

92 papers

RefSeq Summary

This gene encodes a member of the cytokine type I receptor family. The protein forms a secreted complex with cardiotrophin-like cytokine factor 1 and acts on cells expressing ciliary neurotrophic fact...

Pfam Domains

EpoR_lig-bindaa 131–228UCSCErythropoietin receptor, ligand binding

fn3aa 236–336UCSCFibronectin type III domain

Gene Aliases

HGNC Name

cytokine receptor like factor 1

HGNC Alias Symbols

CLF-1; CLF; CISS; CISS1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

6 papers

NM_004750.5

p.T226insFs

c.677_678insA

Surrounding Variants

2 papers

NM_004750.5

p.T226fs

c.676_677fs

2 papers

NM_004750.5

p.S222S

c.666C>T

1 paper

NM_004750.5

p.S222S

c.666C>G

2 papers

NM_004750.5

p.R221C

c.661C>T

1 paper

NM_004750.5

p.G218D

c.653G>A

2 papers

NM_004750.5

p.R216C

c.646C>T

2 papers

NM_004750.5

p.N215H

c.643A>C

1 paper

NM_004750.5

p.Y207*

c.621T>G

1 paper

NM_004750.5

p.Y207*

c.621T>A

1 paper

NM_004750.5

p.A202fs

c.604_605fs

2 papers

NM_004750.5

p.A202delFs

c.605delG

1 paper

NM_004750.5

p.A202fs

c.604_605fs