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

5 papers

NM_002184.4

p.L397V

c.1189C>G

Surrounding Variants

1 paper

NM_002184.4

p.L397L

c.1189C>T

1 paper

NM_002184.4

p.L400V

c.1198C>G

1 paper

NM_002184.4

p.L400Q

c.1199T>A

11 papers

NM_002184.4

p.N404Y

c.1210A>T

1 paper

NM_002184.4

p.V389A

c.1166T>C

1 paper

NM_002184.4

p.V389L

c.1165G>T

1 paper

NM_002184.4

p.V389L

c.1165G>C

1 paper

NM_002184.4

p.L405H

c.1214T>A

1 paper

NM_002184.4

p.L405fs

c.1213_1214fs

1 paper

NM_002184.4

p.V406F

c.1216G>T

1 paper

NM_002184.4

p.T385K

c.1154C>A

1 paper

NM_002184.4

p.V413L

c.1237G>C