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.N397_G398insFs

c.1191_1192insG

Surrounding Variants

1 paper

NM_007315.4

p.G398S

c.1192G>A

12 papers

NM_007315.4

p.N397D

c.1189A>G

1 paper

NM_007315.4

p.T396I

c.1187C>T

1 paper

NM_007315.4

p.T396A

c.1186A>G

3 papers

NM_007315.4

p.S395F

c.1184C>T

7 papers

NM_007315.4

p.L400V

c.1198C>G

1 paper

NM_007315.4

p.L400P

c.1199T>C

6 papers

NM_007315.4

p.L400Q

c.1199T>A

1 paper

NM_007315.4

p.A401T

c.1201G>A

1 paper

NM_007315.4

p.E394K

c.1180G>A

1 paper

NM_007315.4

p.A401V

c.1202C>T

1 paper

NM_007315.4

p.A401E

c.1202C>A