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

2 papers

NM_004750.5

p.T40delFs

c.120delT

Surrounding Variants

2 papers

NM_004750.5

p.A41fs

c.121_122fs

1 paper

NM_004750.5

p.D47H

c.139G>C

1 paper

NM_004750.5

p.D47fs

c.139_140fs

1 paper

NM_004750.5

p.L56P

c.167T>C

1 paper

NM_004750.5

p.C60S

c.178T>A

1 paper

NM_004750.5

p.C60S

c.179G>C

2 papers

NM_004750.5

p.L74P

c.221T>C

2 papers

NM_004750.5

p.Y75D

c.223T>G

5 papers

NM_004750.5

p.W76G

c.226T>G

4 papers

NM_004750.5

p.Y75_T77del3

c.223_230del9

1 paper

NM_004750.5

p.N79N

c.237C>T

1 paper

NM_004750.5

p.G80fs

c.238_239fs