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

1 paper

NM_007315.4

p.E284A

c.851A>C

Surrounding Variants

1 paper

NM_007315.4

p.E284insFs

c.850_851ins4

6 papers

NM_007315.4

p.E284K

c.850G>A

6 papers

NM_007315.4

p.L283F

c.849G>T

6 papers

NM_007315.4

p.L283F

c.849G>C

5 papers

NM_007315.4

p.Q285K

c.853C>A

7 papers

NM_007315.4

p.L283S

c.848T>C

14 papers

NM_007315.4

p.Q285R

c.854A>G

1 paper

NM_007315.4

p.L283V

c.847T>G

8 papers

NM_007315.4

p.L283M

c.847T>A

2 papers

NM_007315.4

p.Q285Q

c.855G>A

1 paper

NM_007315.4

p.E282D

c.846A>T

2 papers

NM_007315.4

p.K286E

c.856A>G