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

2 papers

NM_002184.4

p.T188_V192del0

c.563_574del12

Surrounding Variants

2 papers

NM_002184.4

p.Y186_V192del0

c.557_574del18

1 paper

NM_002184.4

p.V192F

c.574G>T

1 paper

NM_002184.4

p.V192I

c.574G>A

1 paper

NM_002184.4

p.F191del1

c.571_572delAAA

1 paper

NM_002184.4

p.V189_V192delins

c.565_574delinsT

1 paper

NM_002184.4

p.T188_F191del0

c.562_573del12

1 paper

NM_002184.4

p.S187_F191del0

c.559_573del15

2 papers

NM_002184.4

p.T188_V192del0

c.564_575del12

1 paper

NM_002184.4

p.T188_V192delins

c.564_576delinsA

1 paper

NM_002184.4

p.F191L

c.573T>G

1 paper

NM_002184.4

p.F191L

c.573T>A

3 papers

NM_002184.4

p.V189_V192del0

c.565_576del12