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.K697delFs

c.2091delT

Surrounding Variants

1 paper

NM_007315.4

p.G698fs

c.2092_2093fs

1 paper

NM_007315.4

p.L693_P696del4

c.2077_2087del12

1 paper

NM_007315.4

p.P696L

c.2087C>T

1 paper

NM_007315.4

p.P696R

c.2087C>G

6 papers

NM_007315.4

p.P696H

c.2087C>A

18 papers

NM_007315.4

p.P696S

c.2086C>T

1 paper

NM_007315.4

p.G700E

c.2099G>A

1 paper

NM_007315.4

p.G695D

c.2084G>A

1 paper

NM_007315.4

p.G695S

c.2083G>A

67 papers

NM_007315.4

p.Y701F

c.2102A>T

38 papers

NM_007315.4

p.Y701C

c.2102A>G

1 paper

NM_007315.4

p.D694N

c.2080G>A