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

9 papers

NM_002184.4

p.P498L

c.1493C>T

Surrounding Variants

1 paper

NM_002184.4

p.V499I

c.1495G>A

1 paper

NM_002184.4

p.T495delFs

c.1485delT

1 paper

NM_002184.4

p.D502Y

c.1504G>T

1 paper

NM_002184.4

p.G503R

c.1507G>C

1 paper

NM_002184.4

p.G503R

c.1507G>A

1 paper

NM_002184.4

p.P507L

c.1520C>T

1 paper

NM_002184.4

p.A512V

c.1535C>T

1 paper

NM_002184.4

p.Y513C

c.1538A>G

6 papers

NM_002184.4

p.A517P

c.1549G>C

1 paper

NM_002184.4

p.P518S

c.1552C>T

1 paper

NM_002184.4

p.P518Splc

c.1552+1G>C

1 paper

NM_002184.4

p.P518Splc

c.1552+3A>C