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.V413V

c.1239T>G

Surrounding Variants

1 paper

NM_002184.4

p.V413L

c.1237G>C

1 paper

NM_002184.4

p.T415I

c.1244C>T

1 paper

NM_002184.4

p.I416F

c.1246A>T

1 paper

NM_002184.4

p.P417H

c.1250C>A

1 paper

NM_002184.4

p.A418D

c.1253C>A

1 paper

NM_002184.4

p.D420N

c.1258G>A

1 paper

NM_002184.4

p.V406F

c.1216G>T

1 paper

NM_002184.4

p.L405fs

c.1213_1214fs

1 paper

NM_002184.4

p.L405H

c.1214T>A

1 paper

NM_002184.4

p.A418_F421del0

c.1252_1263del12

1 paper

NM_002184.4

p.A423Splc

c.1267+1G>C

11 papers

NM_002184.4

p.N404Y

c.1210A>T