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.I852fs

c.2554_2555fs

Surrounding Variants

1 paper

NM_002184.4

p.Q851L

c.2552A>T

1 paper

NM_002184.4

p.Q851_S853del3

c.2551_2558del9

1 paper

NM_002184.4

p.K849R

c.2546A>G

1 paper

NM_002184.4

p.K849fs

c.2545_2546fs

1 paper

NM_002184.4

p.H855R

c.2564A>G

1 paper

NM_002184.4

p.H855P

c.2564A>C

1 paper

NM_002184.4

p.D844E

c.2532T>G

1 paper

NM_002184.4

p.D844G

c.2531A>G

1 paper

NM_002184.4

p.D844H

c.2530G>C

1 paper

NM_002184.4

p.S839*

c.2516C>G

1 paper

NM_002184.4

p.S839*

c.2516C>A

1 paper

NM_002184.4

p.K866R

c.2597A>G