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.H724delFs

c.2170_2171delTG

Surrounding Variants

1 paper

NM_002184.4

p.H724fs

c.2170_2171fs

1 paper

NM_002184.4

p.G729insFs

c.2185_2186insC

1 paper

NM_002184.4

p.G730insFs

c.2190dupG

2 papers

NM_002184.4

p.I719fs

c.2155_2156fs

4 papers

NM_002184.4

p.S731fs

c.2191_2192fs

4 papers

NM_002184.4

p.I719insFs

c.2155dupA

1 paper

NM_002184.4

p.I719N

c.2156T>A

3 papers

NM_002184.4

p.I719fs

c.2155_2156fs

1 paper

NM_002184.4

p.K718R

c.2153A>G

4 papers

NM_002184.4

p.C733*

c.2199C>A

1 paper

NM_002184.4

p.K716R

c.2147A>G

1 paper

NM_002184.4

p.K716fs

c.2146_2147fs