Varaico: Literature-Extracted Genetic Variants

STAT2

360 papers

RefSeq Summary

The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and the...

Pfam Domains

STAT_intaa 2–123UCSCSTAT protein, protein interaction domain

STAT_alphaaa 146–308UCSCSTAT transcription factor, coiled-coil domain

STAT_bindaa 320–456UCSCSTAT protein, DNA binding domain

STAT_linkeraa 479–557UCSCSignal transducer and activator of transcription, linker domain

SH2aa 577–648UCSCSH2 domain

STAT2_Caa 783–838UCSCSignal transducer and activator of transcription 2 C terminal

Gene Aliases

HGNC Name

signal transducer and activator of transcription 2

HGNC Alias Symbol

STAT113

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005419.4

p.Q103P

c.308A>C

Surrounding Variants

1 paper

NM_005419.4

p.D100E

c.300T>A

2 papers

NM_005419.4

p.L111F

c.331C>T

1 paper

NM_005419.4

p.Q95_P96Splc

c.286-24A>G

1 paper

NM_005419.4

p.Q123H

c.369G>T

1 paper

NM_005419.4

p.Q123H

c.369G>C

1 paper

NM_005419.4

p.A125P

c.373G>C

1 paper

NM_005419.4

p.L127F

c.381G>C

9 papers

NM_005419.4

p.L127_E128Splc

c.381+5G>C

1 paper

NM_005419.4

p.G130*

c.388G>T

1 paper

NM_005419.4

p.L134F

c.400C>T

1 paper

NM_005419.4

p.E135G

c.404A>G

1 paper

NM_005419.4

p.E139Q

c.415G>C