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.S710F

c.2129C>T

Surrounding Variants

5 papers

NM_007315.4

p.E711Q

c.2131G>C

1 paper

NM_007315.4

p.V709L

c.2125G>T

1 paper

NM_007315.4

p.V709L

c.2125G>C

5 papers

NM_007315.4

p.S708F

c.2123C>T

1 paper

NM_007315.4

p.S708A

c.2122T>G

1 paper

NM_007315.4

p.V712Splc

c.2135+1G>A

5 papers

NM_007315.4

p.I707T

c.2120T>C

2 papers

NM_007315.4

p.I707N

c.2120T>A

48 papers

NM_007315.4

p.L706S

c.2117T>C

1 paper

NM_007315.4

p.L706L

c.2116T>C

1 paper

NM_007315.4

p.L706M

c.2116T>A

8 papers

NM_007315.4

p.E705V

c.2114A>T