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

5 papers

NM_007315.4

p.P326S

c.976C>T

Surrounding Variants

3 papers

NM_007315.4

p.P326L

c.977C>T

8 papers

NM_007315.4

p.M325K

c.974T>A

1 paper

NM_007315.4

p.T327A

c.979A>G

3 papers

NM_007315.4

p.T327R

c.980C>G

1 paper

NM_007315.4

p.C324W

c.972C>G

8 papers

NM_007315.4

p.C324F

c.971G>T

4 papers

NM_007315.4

p.C324Y

c.971G>A

1 paper

NM_007315.4

p.T327T

c.981G>A

1 paper

NM_007315.4

p.P323_T327delFs

c.967_979del13

13 papers

NM_007315.4

p.C324R

c.970T>C

1 paper

NM_007315.4

p.H328Y

c.982C>T

13 papers

NM_007315.4

p.H328R

c.983A>G