Varaico: Literature-Extracted Genetic Variants

STAT1

1,286 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 2–120UCSCSTAT protein, protein interaction domain

STAT_alphaaa 143–309UCSCSTAT transcription factor, coiled-coil domain

STAT_bindaa 321–458UCSCSTAT protein, DNA binding domain

STAT_linkeraa 480–558UCSCSignal transducer and activator of transcription, linker domain

SH2aa 573–651UCSCSH2 domain

STAT1_TAZ2bindaa 715–739UCSCSTAT1 TAZ2 binding domain

Gene Aliases

HGNC Name

signal transducer and activator of transcription 1

HGNC Alias Symbols

STAT91; ISGF-3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_007315.4

p.K388Q

c.1162A>C

Surrounding Variants

14 papers

NM_007315.4

p.K388E

c.1162A>G

1 paper

NM_007315.4

p.T387T

c.1161A>T

3 papers

NM_007315.4

p.K388R

c.1163A>G

1 paper

NM_007315.4

p.T387I

c.1160C>T

1 paper

NM_007315.4

p.T387R

c.1160C>G

6 papers

NM_007315.4

p.V389L

c.1165G>T

6 papers

NM_007315.4

p.V389L

c.1165G>C

11 papers

NM_007315.4

p.T387A

c.1159A>G

2 papers

NM_007315.4

p.V389G

c.1166T>G

3 papers

NM_007315.4

p.V389A

c.1166T>C

1 paper

NM_007315.4

p.V389E

c.1166T>A

1 paper

NM_007315.4

p.H386insFs

c.1156_1157insT