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

8 papers

NM_002184.4

p.R281*

c.841C>T

Surrounding Variants

7 papers

NM_002184.4

p.R281Q

c.842G>A

1 paper

NM_002184.4

p.F284_T285del1

c.851_853delTGA

1 paper

NM_002184.4

p.F284_T285del2

c.850_854del6

2 papers

NM_002184.4

p.P273P

c.819T>G

1 paper

NM_002184.4

p.P273L

c.818C>T

1 paper

NM_002184.4

p.T293A

c.877A>G

1 paper

NM_002184.4

p.F297Y

c.890T>A

1 paper

NM_002184.4

p.R298R

c.892A>C

3 papers

NM_002184.4

p.R300C

c.898C>T

1 paper

NM_002184.4

p.C301G

c.901T>G

1 paper

NM_002184.4

p.K303T

c.908A>C

1 paper

NM_002184.4

p.D305N

c.913G>A