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

8 papers

NM_004750.5

p.Q180*

c.538C>T

Surrounding Variants

1 paper

NM_004750.5

p.Q180insFs

c.538_539insA

1 paper

NM_004750.5

p.Q180insFs

c.539dupA

2 papers

NM_004750.5

p.D181fs

c.541_542fs

1 paper

NM_004750.5

p.Y178C

c.533A>G

1 paper

NM_004750.5

p.W177*

c.531G>A

1 paper

NM_004750.5

p.W177*

c.530G>A

1 paper

NM_004750.5

p.R176K

c.527G>A

1 paper

NM_004750.5

p.R176Splc

c.528-4G>A

1 paper

NM_004750.5

p.G191R

c.571G>C

1 paper

NM_004750.5

p.G191R

c.571G>A

1 paper

NM_004750.5

p.P198S

c.592C>T

1 paper

NM_004750.5

p.A202fs

c.604_605fs