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.L472F

c.1414C>T

Surrounding Variants

1 paper

NM_007315.4

p.N475S

c.1424A>G

1 paper

NM_007315.4

p.W468R

c.1402T>C

1 paper

NM_007315.4

p.W468R

c.1402T>A

1 paper

NM_007315.4

p.N475delFs

c.1425delG

1 paper

NM_007315.4

p.M476I

c.1428G>T

1 paper

NM_007315.4

p.M476I

c.1428G>C

1 paper

NM_007315.4

p.M476I

c.1428G>A

11 papers

NM_007315.4

p.S466R

c.1398C>G

11 papers

NM_007315.4

p.S466R

c.1398C>A

1 paper

NM_007315.4

p.L477L

c.1431G>A

11 papers

NM_007315.4

p.S466R

c.1396A>C

3 papers

NM_007315.4

p.A479V

c.1436C>T