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.L101R

c.302T>G

Surrounding Variants

1 paper

NM_002184.4

p.L101V

c.301C>G

1 paper

NM_002184.4

p.T102S

c.305C>G

1 paper

NM_002184.4

p.Q100*

c.298C>T

5 papers

NM_002184.4

p.C103Y

c.308G>A

1 paper

NM_002184.4

p.L106V

c.316C>G

1 paper

NM_002184.4

p.N104_I105delFs

c.312_315del4

1 paper

NM_002184.4

p.A95delFs

c.284_285delAG

1 paper

NM_002184.4

p.G109E

c.326G>A

1 paper

NM_002184.4

p.T92R

c.275C>G

1 paper

NM_002184.4

p.Q110R

c.329A>G

1 paper

NM_002184.4

p.Q110Q

c.330G>A

1 paper

NM_002184.4

p.T90I

c.269C>T