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.P216L

c.647C>T

Surrounding Variants

1 paper

NM_002184.4

p.G205_P216ins4

c.614_646dup33

6 papers

NM_002184.4

p.P216H

c.647C>A

1 paper

NM_002184.4

p.P216insFs

c.646dupC

1 paper

NM_002184.4

p.K206_D215ins3

c.616_645dup30

1 paper

NM_002184.4

p.P216ins11

c.646_647ins33

3 papers

NM_002184.4

p.D215del1

c.643_645delATC

1 paper

NM_002184.4

p.P216del1

c.646_647delAGG

1 paper

NM_002184.4

p.D215G

c.644A>G

1 paper

NM_002184.4

p.D215_P216ins11

c.643_647ins33

1 paper

NM_002184.4

p.F214_V217del0

c.642_650del9

1 paper

NM_002184.4

p.K206_F214ins3

c.618_641dup24

1 paper

NM_002184.4

p.N213_F214ins8

c.637_641ins24