Varaico: Literature-Extracted Genetic Variants

Gene:PJVK
Variant:p.H294fs

PJVK

118 papers

RefSeq Summary

The protein encoded by this gene is a member of the gasdermin family, a family which is found only in vertebrates. The encoded protein is required for the proper function of auditory pathway neurons. ...

Pfam Domains

Gasderminaa 1–236UCSCGasdermin pore forming domain

Gene Aliases

HGNC Name

pejvakin

HGNC Previous Symbol

DFNB59

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001042702.5
p.H294fs
c.880_881fs
Surrounding Variants
2 papers
NM_001042702.5
p.H294D
c.880C>G
1 paper
NM_001042702.5
p.T293S
c.878C>G
1 paper
NM_001042702.5
p.T293S
c.877A>T
2 papers
NM_001042702.5
p.H294delFs
c.880delC
3 papers
NM_001042702.5
p.R296*
c.886C>T
17 papers
NM_001042702.5
p.G292R
c.874G>A
16 papers
NM_001042702.5
p.G292R
c.874G>C
2 papers
NM_001042702.5
p.R296Q
c.887G>A
1 paper
NM_001042702.5
p.R296L
c.887G>T
3 papers
NM_001042702.5
p.K290*
c.868A>T
2 papers
NM_001042702.5
p.L299_L300del2
c.895_899del6
1 paper
NM_001042702.5
p.I287T
c.860T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."