Varaico: Literature-Extracted Genetic Variants

IL6ST

464 papers

RefSeq Summary

The protein encoded by this gene is a signal transducer shared by many cytokines, including interleukin 6 (IL6), ciliary neurotrophic factor (CNTF), leukemia inhibitory factor (LIF), and oncostatin M ...

Pfam Domains

Lep_receptor_Igaa 26–103UCSCIg-like C2-type domain

Lep_receptor_Igaa 26–120UCSCIg-like C2-type domain

LIFR_D4aa 125–217UCSCLeukemia inhibitory factor receptor D4 domain

fn3aa 223–317UCSCFibronectin type III domain

fn3aa 447–540UCSCFibronectin type III domain

fn3aa 483–576UCSCFibronectin type III domain

Gene Aliases

HGNC Name

interleukin 6 cytokine family signal transducer

HGNC Alias Symbols

GP130; CD130; sGP130; IL-6RB

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002184.4

p.S735L

c.2204C>T

Surrounding Variants

1 paper

NM_002184.4

p.S736S

c.2208T>G

4 papers

NM_002184.4

p.C733*

c.2199C>A

1 paper

NM_002184.4

p.G730insFs

c.2190dupG

4 papers

NM_002184.4

p.S731fs

c.2191_2192fs

1 paper

NM_002184.4

p.G729insFs

c.2185_2186insC

2 papers

NM_002184.4

p.S742fs

c.2224_2225fs

1 paper

NM_002184.4

p.S742F

c.2225C>T

1 paper

NM_002184.4

p.S742insFs

c.2224dupT

2 papers

NM_002184.4

p.S742fs

c.2224_2225fs

1 paper

NM_002184.4

p.H724delFs

c.2170_2171delTG

2 papers

NM_002184.4

p.D745E

c.2235T>G

2 papers

NM_002184.4

p.D745E

c.2235T>A