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.Y626N

c.1876T>A

Surrounding Variants

2 papers

NM_005419.4

p.V628fs

c.1882_1883fs

2 papers

NM_005419.4

p.V628delFs

c.1883_1884delCA

1 paper

NM_005419.4

p.K622M

c.1865A>T

1 paper

NM_005419.4

p.K622Q

c.1864A>C

1 paper

NM_005419.4

p.P630L

c.1889C>T

3 papers

NM_005419.4

p.Y631F

c.1892A>T

1 paper

NM_005419.4

p.T632M

c.1895C>T

2 papers

NM_005419.4

p.V635ins1

c.1904_1905insACA

2 papers

NM_005419.4

p.V635_L636insFs

c.1905_1906insA

1 paper

NM_005419.4

p.P640R

c.1919C>G

1 paper

NM_005419.4

p.E643insFs

c.1928_1929insA

1 paper

NM_005419.4

p.R646C

c.1936C>T