Varaico: Literature-Extracted Genetic Variants

Gene:POU3F2
Variant:p.Q147_Q148del1

POU3F2

77 papers

RefSeq Summary

This gene encodes a member of the POU-III class of neural transcription factors. The encoded protein is involved in neuronal differentiation and enhances the activation of corticotropin-releasing horm...

Pfam Domains

Pouaa 265–336UCSCPou domain - N-terminal to homeobox domain
Homeodomainaa 355–411UCSCHomeodomain

Gene Aliases

HGNC Name

POU class 3 homeobox 2

HGNC Previous Symbol

OTF7

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_005604.4
p.Q147_Q148del1
c.441_443delGCA
Surrounding Variants
1 paper
NM_005604.4
p.Q142K
c.424C>A
1 paper
NM_005604.4
p.Q134Q
c.402A>G
3 papers
NM_005604.4
p.Q149del1
c.445_446delCAG
1 paper
NM_005604.4
p.A158P
c.472G>C
1 paper
NM_005604.4
p.A159S
c.475G>T
2 papers
NM_005604.4
p.L118L
c.354G>T
1 paper
NM_005604.4
p.S106L
c.317C>T
1 paper
NM_005604.4
p.A183_Y190delFs
c.547_569del23
1 paper
NM_005604.4
p.W93C
c.279G>C
1 paper
NM_005604.4
p.W93C
c.279G>T
1 paper
NM_005604.4
p.P92P
c.276G>C
1 paper
NM_005604.4
p.S91A
c.271T>G
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