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

1–12 of 260 variants

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

14 papers

NM_005419.4

p.R148Q

c.443G>A

13 papers

NM_005419.4

p.R148W

c.442C>T

11 papers

NM_005419.4

p.G825C

c.2473G>T

10 papers

NM_005419.4

p.Q826H

c.2478G>T

9 papers

NM_005419.4

p.L127_E128Splc

c.381+5G>C

9 papers

NM_005419.4

p.L275L

c.825G>C

9 papers

NM_005419.4

p.Q826H

c.2478G>C

7 papers

NM_005419.4

p.C612*

c.1836C>A

6 papers

NM_005419.4

p.R330*

c.988C>T