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.A200V

c.599C>T

Surrounding Variants

2 papers

NM_002184.4

p.A200G

c.599C>G

1 paper

NM_002184.4

p.E199E

c.597A>G

1 paper

NM_002184.4

p.E199G

c.596A>G

1 paper

NM_002184.4

p.V196del1

c.586_587delGAC

1 paper

NM_002184.4

p.E195_V196del0

c.583_588del6

1 paper

NM_002184.4

p.G205R

c.613G>C

1 paper

NM_002184.4

p.G205R

c.613G>A

1 paper

NM_002184.4

p.V192_I194del0

c.574_582del9

1 paper

NM_002184.4

p.I194del1

c.580_581delAAT

1 paper

NM_002184.4

p.F191_I194delins

c.573_582delinsG

1 paper

NM_002184.4

p.N193del1

c.577_578delGTT

1 paper

NM_002184.4

p.I194F

c.580A>T