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

5 papers

NM_007315.4

p.Y287N

c.859T>A

Surrounding Variants

7 papers

NM_007315.4

p.Y287D

c.859T>G

5 papers

NM_007315.4

p.Y287H

c.859T>C

7 papers

NM_007315.4

p.K286I

c.857A>T

1 paper

NM_007315.4

p.E284_Q285delFs

c.852_855del4

1 paper

NM_007315.4

p.T288S

c.862A>T

25 papers

NM_007315.4

p.T288A

c.862A>G

2 papers

NM_007315.4

p.K286E

c.856A>G

8 papers

NM_007315.4

p.T288P

c.862A>C

2 papers

NM_007315.4

p.Q285Q

c.855G>A

9 papers

NM_007315.4

p.T288I

c.863C>T

4 papers

NM_007315.4

p.T288N

c.863C>A

14 papers

NM_007315.4

p.Q285R

c.854A>G