Varaico: Literature-Extracted Genetic Variants

Gene:GSDME
Variant:p.N152K

GSDME

167 papers

RefSeq Summary

Hearing impairment is a heterogeneous condition with over 40 loci described. The protein encoded by this gene is expressed in fetal cochlea, however, its function is not known. Nonsyndromic hearing im...

Pfam Domains

Gasderminaa 1–246UCSCGasdermin pore forming domain
Gasderminaa 1–246UCSCGasdermin pore forming domain
Gasdermin_Caa 281–468UCSCGasdermin PUB domain

Gene Aliases

HGNC Name

gasdermin E

HGNC Previous Symbol

DFNA5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001127453.2
p.N152K
c.456T>A
Surrounding Variants
1 paper
NM_001127453.2
p.N152K
c.456T>G
1 paper
NM_001127453.2
p.V154V
c.462C>T
4 papers
NM_001127453.2
p.E149E
c.447A>G
1 paper
NM_001127453.2
p.Q160*
c.478C>T
2 papers
NM_001127453.2
p.P142H
c.425C>A
7 papers
NM_001127453.2
p.P142T
c.424C>A
3 papers
NM_001127453.2
p.T163T
c.489G>A
1 paper
NM_001127453.2
p.M165I
c.495G>T
1 paper
NM_001127453.2
p.M165I
c.495G>C
1 paper
NM_001127453.2
p.M165I
c.495G>A
2 papers
NM_001127453.2
p.R135Splc
c.405-2A>G
1 paper
NM_001127453.2
p.S171insFs
c.511_512ins4
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."