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.T761I

c.2282C>T

Surrounding Variants

1 paper

NM_002184.4

p.Y759_T761insFs

c.2277_2281dup5

2 papers

NM_002184.4

p.T761fs

c.2281_2282fs

2 papers

NM_002184.4

p.T761fs

c.2281_2282fs

1 paper

NM_002184.4

p.V762M

c.2284G>A

4 papers

NM_002184.4

p.Y759*

c.2277T>G

4 papers

NM_002184.4

p.Y759*

c.2277T>A

15 papers

NM_002184.4

p.Y759F

c.2276A>T

1 paper

NM_002184.4

p.Y759fs

c.2275_2276fs

1 paper

NM_002184.4

p.H764Y

c.2290C>T

1 paper

NM_002184.4

p.S755R

c.2265C>G

1 paper

NM_002184.4

p.S755R

c.2265C>A

1 paper

NM_002184.4

p.S755R

c.2263A>C