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

2 papers

NM_002184.4

p.E899*

c.2695G>T

Surrounding Variants

1 paper

NM_002184.4

p.E899fs

c.2695_2696fs

1 paper

NM_002184.4

p.A896V

c.2687C>T

1 paper

NM_002184.4

p.K903R

c.2708A>G

1 paper

NM_002184.4

p.E894K

c.2680G>A

1 paper

NM_002184.4

p.Y905F

c.2714A>T

2 papers

NM_002184.4

p.L906fs

c.2716_2717fs

1 paper

NM_002184.4

p.T890K

c.2669C>A

1 paper

NM_002184.4

p.T890A

c.2668A>G

1 paper

NM_002184.4

p.T909A

c.2725A>G

1 paper

NM_002184.4

p.R911Q

c.2732G>A

2 papers

NM_002184.4

p.G913fs

c.2737_2738fs

1 paper

NM_002184.4

p.G913fs

c.2737_2738fs