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

2 papers

NM_007315.4

p.A267E

c.800C>A

Surrounding Variants

61 papers

NM_007315.4

p.A267V

c.800C>T

1 paper

NM_007315.4

p.A267S

c.799G>T

3 papers

NM_007315.4

p.A267T

c.799G>A

1 paper

NM_007315.4

p.V266fs

c.796_797fs

1 paper

NM_007315.4

p.E268*

c.802G>T

1 paper

NM_007315.4

p.V266A

c.797T>C

1 paper

NM_007315.4

p.E268A

c.803A>C

25 papers

NM_007315.4

p.V266I

c.796G>A

4 papers

NM_007315.4

p.I265V

c.793A>G

1 paper

NM_007315.4

p.T264A

c.790A>G

2 papers

NM_007315.4

p.Q271*

c.811C>T

19 papers

NM_007315.4

p.Q271P

c.812A>C