Varaico: Literature-Extracted Genetic Variants

STAT6

483 papers

RefSeq Summary

The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated...

Pfam Domains

STAT_intaa 2–114UCSCSTAT protein, protein interaction domain

STAT_alphaaa 148–262UCSCSTAT transcription factor, coiled-coil domain

STAT_bindaa 277–413UCSCSTAT protein, DNA binding domain

STAT_linkeraa 435–518UCSCSignal transducer and activator of transcription, linker domain

SH2aa 537–616UCSCSH2 domain

STAT6_Caa 655–847UCSCSTAT6 C-terminal

Gene Aliases

HGNC Name

signal transducer and activator of transcription 6

HGNC Alias Symbols

D12S1644; IL-4-STAT

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

10 papers

NM_003153.5

p.D519N

c.1555G>A

Surrounding Variants

7 papers

NM_003153.5

p.D519H

c.1555G>C

2 papers

NM_003153.5

p.D519V

c.1556A>T

1 paper

NM_003153.5

p.W515R

c.1543T>C

1 paper

NM_003153.5

p.W515R

c.1543T>A

1 paper

NM_003153.5

p.D523H

c.1567G>C

3 papers

NM_003153.5

p.D523N

c.1567G>A

5 papers

NM_003153.5

p.D523V

c.1568A>T

2 papers

NM_003153.5

p.D523G

c.1568A>G

2 papers

NM_003153.5

p.D523A

c.1568A>C

6 papers

NM_003153.5

p.L524F

c.1570C>T

1 paper

NM_003153.5

p.G509D

c.1526G>A

1 paper

NM_003153.5

p.R530W

c.1588C>T