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.R378G

c.1132A>G

Surrounding Variants

1 paper

NM_007315.4

p.R378K

c.1133G>A

2 papers

NM_007315.4

p.K379R

c.1136A>G

1 paper

NM_007315.4

p.K379insFs

c.1135_1136insA

1 paper

NM_007315.4

p.G376Splc

c.1128-1G>A

2 papers

NM_007315.4

p.G376Splc

c.1128-2A>G

2 papers

NM_007315.4

p.N381S

c.1142A>G

1 paper

NM_007315.4

p.L383V

c.1147T>G

3 papers

NM_007315.4

p.G384C

c.1150G>T

2 papers

NM_007315.4

p.G384S

c.1150G>A

1 paper

NM_007315.4

p.G384V

c.1151G>T

3 papers

NM_007315.4

p.G384A

c.1151G>C

13 papers

NM_007315.4

p.G384D

c.1151G>A