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

7 papers

NM_005419.4

p.C612*

c.1836C>A

Surrounding Variants

1 paper

NM_005419.4

p.C612W

c.1836C>G

1 paper

NM_005419.4

p.S613F

c.1838C>T

1 paper

NM_005419.4

p.L600P

c.1799T>C

15 papers

NM_005419.4

p.M594I

c.1782G>T

15 papers

NM_005419.4

p.M594I

c.1782G>C

15 papers

NM_005419.4

p.M594I

c.1782G>A

2 papers

NM_005419.4

p.L590L

c.1770G>C

1 paper

NM_005419.4

p.R588Q

c.1763G>A

1 paper

NM_005419.4

p.E586delFs

c.1757_1758delCT

1 paper

NM_005419.4

p.R576L

c.1727G>T

1 paper

NM_005419.4

p.K622Q

c.1864A>C

1 paper

NM_005419.4

p.K622M

c.1865A>T