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

1–12 of 471 variants

21 papers

NM_002184.4

p.G148R

c.442G>C

15 papers

NM_002184.4

p.Y759F

c.2276A>T

11 papers

NM_002184.4

p.N404Y

c.1210A>T

9 papers

NM_002184.4

p.P498L

c.1493C>T

8 papers

NM_002184.4

p.R281*

c.841C>T

7 papers

NM_002184.4

p.R281Q

c.842G>A

6 papers

NM_002184.4

p.P216H

c.647C>A

6 papers

NM_002184.4

p.A517P

c.1549G>C

6 papers

NM_002184.4

p.V637M

c.1909G>A

5 papers

NM_002184.4

p.C103Y

c.308G>A

5 papers

NM_002184.4

p.L397V

c.1189C>G

5 papers

NM_002184.4

p.P434R

c.1301C>G