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

2 papers

NM_005419.4

p.C174R

c.520T>C

Surrounding Variants

1 paper

NM_005419.4

p.V172V

c.516C>T

1 paper

NM_005419.4

p.D171V

c.512A>T

1 paper

NM_005419.4

p.D171N

c.511G>A

1 paper

NM_005419.4

p.D168E

c.504C>G

1 paper

NM_005419.4

p.D168E

c.504C>A

1 paper

NM_005419.4

p.K182I

c.545A>T

1 paper

NM_005419.4

p.K158fs

c.472_473fs

1 paper

NM_005419.4

p.E157_K158Splc

c.472-24A>T

1 paper

NM_005419.4

p.E157_K158Splc

c.472-70T>C

2 papers

NM_005419.4

p.E157K

c.469G>A

1 paper

NM_005419.4

p.M155I

c.465G>T

1 paper

NM_005419.4

p.M155I

c.465G>C