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.V136E

c.407T>A

Surrounding Variants

1 paper

NM_002184.4

p.I135V

c.403A>G

2 papers

NM_002184.4

p.E138K

c.412G>A

1 paper

NM_002184.4

p.S133delFs

c.398delC

1 paper

NM_002184.4

p.K140K

c.420G>A

1 paper

NM_002184.4

p.P129P

c.387T>A

1 paper

NM_002184.4

p.P129A

c.385C>G

1 paper

NM_002184.4

p.E145A

c.434A>C

1 paper

NM_002184.4

p.E145E

c.435G>A

1 paper

NM_002184.4

p.P125R

c.374C>G

1 paper

NM_002184.4

p.G148C

c.442G>T

21 papers

NM_002184.4

p.G148R

c.442G>C

1 paper

NM_002184.4

p.L154F

c.462G>T