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.L439F

c.1315C>T

Surrounding Variants

1 paper

NM_002184.4

p.M438I

c.1314G>T

1 paper

NM_002184.4

p.M438I

c.1314G>C

1 paper

NM_002184.4

p.M438I

c.1314G>A

1 paper

NM_002184.4

p.M438K

c.1313T>A

1 paper

NM_002184.4

p.W443C

c.1329G>T

1 paper

NM_002184.4

p.W443C

c.1329G>C

5 papers

NM_002184.4

p.P434R

c.1301C>G

2 papers

NM_002184.4

p.F433insFs

c.1297_1298insT

1 paper

NM_002184.4

p.T444T

c.1332T>G

1 paper

NM_002184.4

p.V450I

c.1348G>A

2 papers

NM_002184.4

p.I454T

c.1361T>C

1 paper

NM_002184.4

p.W457L

c.1370G>T