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.L638L

c.1912C>T

Surrounding Variants

1 paper

NM_002184.4

p.V637A

c.1910T>C

1 paper

NM_002184.4

p.V637L

c.1909G>T

1 paper

NM_002184.4

p.V637L

c.1909G>C

6 papers

NM_002184.4

p.V637M

c.1909G>A

1 paper

NM_002184.4

p.K643insFs

c.1928_1929insA

1 paper

NM_002184.4

p.R644*

c.1930C>T

3 papers

NM_002184.4

p.K643_D645del3

c.1927_1934del9

1 paper

NM_002184.4

p.P624R

c.1871C>G

1 paper

NM_002184.4

p.V623L

c.1867G>T

1 paper

NM_002184.4

p.V623L

c.1867G>C

1 paper

NM_002184.4

p.V622F

c.1864G>T

1 paper

NM_002184.4

p.Q615K

c.1843C>A