Varaico: Literature-Extracted Genetic Variants

Gene:PAX8
Variant:p.V75A

PAX8

411 papers

RefSeq Summary

This gene encodes a member of the paired box (PAX) family of transcription factors. Members of this gene family typically encode proteins that contain a paired box domain, an octapeptide, and a paired...

Pfam Domains

PAXaa 9–133UCSC'Paired box' domain
Pax2_Caa 337–449UCSCPaired-box protein 2 C terminal

Gene Aliases

HGNC Name

paired box 8

HGNC Alias Symbol

PAX-8

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003466.4
p.V75A
c.224T>C
Surrounding Variants
1 paper
NM_003466.4
p.V75_I76insFs
c.225_226insAC
1 paper
NM_003466.4
p.V75M
c.223G>A
1 paper
NM_003466.4
p.R72_V75delFs
c.216_225del10
1 paper
NM_003466.4
p.G74E
c.221G>A
1 paper
NM_003466.4
p.P73_G74insFs
c.219_220insG
2 papers
NM_003466.4
p.R72P
c.215G>C
1 paper
NM_003466.4
p.R72W
c.214C>T
1 paper
NM_003466.4
p.S79T
c.235T>A
1 paper
NM_003466.4
p.S79F
c.236C>T
1 paper
NM_003466.4
p.K80*
c.238A>T
1 paper
NM_003466.4
p.K80R
c.239A>G
2 papers
NM_003466.4
p.S70G
c.208A>G
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