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.S318R

c.954T>G

Surrounding Variants

1 paper

NM_002184.4

p.S318R

c.954T>A

1 paper

NM_002184.4

p.S318R

c.952A>C

1 paper

NM_002184.4

p.D312_E315del4

c.934_944del12

1 paper

NM_002184.4

p.E316*

c.946G>T

1 paper

NM_002184.4

p.E316K

c.946G>A

1 paper

NM_002184.4

p.E315_E316ins2

c.945_946ins6

1 paper

NM_002184.4

p.D312_E315del0

c.936_944del9

1 paper

NM_002184.4

p.D312G

c.935A>G

1 paper

NM_002184.4

p.G306_G308ins1

c.916_924dup9

1 paper

NM_002184.4

p.K307E

c.919A>G

1 paper

NM_002184.4

p.D305A

c.914A>C

1 paper

NM_002184.4

p.D305N

c.913G>A