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.M867fs

c.2599_2600fs

Surrounding Variants

1 paper

NM_002184.4

p.K866R

c.2597A>G

1 paper

NM_002184.4

p.E870*

c.2608G>T

1 paper

NM_002184.4

p.A876V

c.2627C>T

1 paper

NM_002184.4

p.F877ins2

c.2629_2630ins6

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.P879S

c.2635C>T

1 paper

NM_002184.4

p.P879T

c.2635C>A

1 paper

NM_002184.4

p.Q851_S853del3

c.2551_2558del9

1 paper

NM_002184.4

p.I852fs

c.2554_2555fs

1 paper

NM_002184.4

p.Q851L

c.2552A>T

1 paper

NM_002184.4

p.K849R

c.2546A>G