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

9 papers

NM_004750.5

p.L374R

c.1121T>G

Surrounding Variants

1 paper

NM_004750.5

p.A378insFs

c.1133_1134insG

3 papers

NM_004750.5

p.K368*

c.1102A>T

1 paper

NM_004750.5

p.R364R

c.1092G>A

1 paper

NM_004750.5

p.E352*

c.1054G>T

1 paper

NM_004750.5

p.A350fs

c.1048_1049fs

1 paper

NM_004750.5

p.G348delFs

c.1044delG

1 paper

NM_004750.5

p.E342Splc

c.1025-65C>A

2 papers

NM_004750.5

p.R340C

c.1018C>T

1 paper

NM_004750.5

p.A336G

c.1007C>G

1 paper

NM_004750.5

p.S331T

c.992G>C

7 papers

NM_004750.5

p.S328insFs

c.983dupG

1 paper

NM_004750.5

p.S328fs

c.982_983fs