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

3 papers

NM_004750.5

p.S259*

c.776C>A

Surrounding Variants

1 paper

NM_004750.5

p.R256P

c.767G>C

2 papers

NM_004750.5

p.F268S

c.803T>C

1 paper

NM_004750.5

p.G247fs

c.739_740fs

1 paper

NM_004750.5

p.V246insFs

c.737dupT

1 paper

NM_004750.5

p.V241_V246insFs

c.721_737dup17

1 paper

NM_004750.5

p.Y276*

c.828C>G

1 paper

NM_004750.5

p.Y276*

c.828C>A

3 papers

NM_004750.5

p.R277*

c.829C>T

1 paper

NM_004750.5

p.V241M

c.721G>A

2 papers

NM_004750.5

p.Y276_R277delFs

c.828_831del4

1 paper

NM_004750.5

p.D240fs

c.718_719fs

1 paper

NM_004750.5

p.P239fs

c.715_716fs