Varaico: Literature-Extracted Genetic Variants

Gene:STAT5A
Variant:p.A630P

STAT5A

650 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 2–124UCSCSTAT protein, protein interaction domain
STAT_alphaaa 145–324UCSCSTAT transcription factor, coiled-coil domain
STAT_bindaa 336–469UCSCSTAT protein, DNA binding domain
STAT_linkeraa 491–574UCSCSignal transducer and activator of transcription, linker domain
SH2aa 593–670UCSCSH2 domain

Gene Aliases

HGNC Name

signal transducer and activator of transcription 5A

HGNC Previous Symbol

STAT5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
8 papers
NM_001288718.2
p.A630P
c.1888G>C
Surrounding Variants
1 paper
NM_001288718.2
p.A630T
c.1888G>A
1 paper
NM_001288718.2
p.W631R
c.1891T>A
1 paper
NM_001288718.2
p.W631R
c.1891T>C
1 paper
NM_001288718.2
p.T628_I629insFs
c.1884_1885insG
4 papers
NM_001288718.2
p.T628S
c.1883C>G
4 papers
NM_001288718.2
p.T628S
c.1882A>T
1 paper
NM_001288718.2
p.I627M
c.1881C>G
2 papers
NM_001288718.2
p.P636S
c.1906C>T
1 paper
NM_001288718.2
p.S622ins1
c.1865_1866insGAA
1 paper
NM_001288718.2
p.F619_G625ins2
c.1855_1875dup21
1 paper
NM_001288718.2
p.R618H
c.1853G>A
1 paper
NM_001288718.2
p.R618G
c.1852C>G
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