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.I397_W398insFs

c.1191_1192insG

Surrounding Variants

2 papers

NM_005419.4

p.W398*

c.1193G>A

2 papers

NM_005419.4

p.W398*

c.1194G>A

1 paper

NM_005419.4

p.L403delFs

c.1209delC

1 paper

NM_005419.4

p.K390R

c.1169A>G

1 paper

NM_005419.4

p.K390E

c.1168A>G

1 paper

NM_005419.4

p.T387A

c.1159A>G

1 paper

NM_005419.4

p.T385I

c.1154C>T

1 paper

NM_005419.4

p.K384R

c.1151A>G

1 paper

NM_005419.4

p.S381*

c.1142C>G

1 paper

NM_005419.4

p.S381*

c.1142C>A

1 paper

NM_005419.4

p.Q371E

c.1111C>G

1 paper

NM_005419.4

p.P368insFs

c.1102_1103insC