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

1–12 of 136 variants

9 papers

NM_004750.5

p.R81H

c.242G>A

9 papers

NM_004750.5

p.W284C

c.852G>T

9 papers

NM_004750.5

p.L374R

c.1121T>G

8 papers

NM_004750.5

p.L25del1

c.73_74delCAG

8 papers

NM_004750.5

p.Q180*

c.538C>T

8 papers

NM_004750.5

p.P238insFs

c.713dupC

7 papers

NM_004750.5

p.W284C

c.852G>C

7 papers

NM_004750.5

p.S328insFs

c.983dupG

6 papers

NM_004750.5

p.Q11_P18delFs

c.31_53del23

6 papers

NM_004750.5

p.T226insFs

c.677_678insA

6 papers

NM_004750.5

p.D236_P237Fs

c.708_709delinsTFs

6 papers

NM_004750.5

p.V282delFs

c.844_845delAC