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

15 papers

NM_007315.4

p.R274G

c.820C>G

Surrounding Variants

70 papers

NM_007315.4

p.R274W

c.820C>T

4 papers

NM_007315.4

p.V273delFs

c.818delA

1 paper

NM_007315.4

p.V273V

c.819T>C

1 paper

NM_007315.4

p.R274L

c.821G>T

1 paper

NM_007315.4

p.R274P

c.821G>C

85 papers

NM_007315.4

p.R274Q

c.821G>A

1 paper

NM_007315.4

p.V273A

c.818T>C

1 paper

NM_007315.4

p.Q275K

c.823C>A

2 papers

NM_007315.4

p.Q275H

c.825G>C

1 paper

NM_007315.4

p.Q276*

c.826C>T

1 paper

NM_007315.4

p.Q276H

c.828G>T

1 paper

NM_007315.4

p.Q276H

c.828G>C