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

7 papers

NM_004750.5

p.S328insFs

c.983dupG

Surrounding Variants

1 paper

NM_004750.5

p.S328fs

c.982_983fs

1 paper

NM_004750.5

p.S328R

c.984T>G

1 paper

NM_004750.5

p.S328R

c.984T>A

5 papers

NM_004750.5

p.S328fs

c.982_983fs

1 paper

NM_004750.5

p.S328R

c.982A>C

1 paper

NM_004750.5

p.S331T

c.992G>C

1 paper

NM_004750.5

p.A336G

c.1007C>G

1 paper

NM_004750.5

p.I318N

c.953T>A

2 papers

NM_004750.5

p.R340C

c.1018C>T

1 paper

NM_004750.5

p.R312L

c.935G>T

2 papers

NM_004750.5

p.R312P

c.935G>C

4 papers

NM_004750.5

p.R312H

c.935G>A