Varaico: Literature-Extracted Genetic Variants

Gene:SPIB
Variant:p.G21D

SPIB

44 papers

RefSeq Summary

The protein encoded by this gene is a transcriptional activator that binds to the PU-box (5'-GAGGAA-3') and acts as a lymphoid-specific enhancer. Four transcript variants encoding different isoforms h...

Pfam Domains

Etsaa 168–252UCSCEts-domain

Gene Aliases

HGNC Name

Spi-B transcription factor

HGNC Alias Symbol

SPI-B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003121.5
p.G21D
c.62G>A
Surrounding Variants
1 paper
NM_003121.5
p.K30*
c.88A>T
1 paper
NM_003121.5
p.K30N
c.90G>C
1 paper
NM_003121.5
p.P35A
c.103C>G
2 papers
NM_003121.5
p.A40T
c.118G>A
1 paper
NM_003121.5
p.P41P
c.123T>C
1 paper
NM_003121.5
p.A50A
c.150C>A
1 paper
NM_003121.5
p.S69N
c.206G>A
1 paper
NM_003121.5
p.P80fs
c.238_239fs
1 paper
NM_003121.5
p.P81R
c.242C>G
1 paper
NM_003121.5
p.S84delins
c.251_252delinsCC
1 paper
NM_003121.5
p.L89V
c.265C>G
1 paper
NM_003121.5
p.P98L
c.293C>T
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