Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.N244H

PRPH2

662 papers

RefSeq Summary

The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the pre...

Pfam Domains

Tetraspaninaa 16–288UCSCTetraspanin family

Gene Aliases

HGNC Name

peripherin 2

HGNC Previous Symbols

RP7; RDS

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
33 papers
NM_000322.5
p.N244H
c.730A>C
Surrounding Variants
3 papers
NM_000322.5
p.N244fs
c.730_731fs
27 papers
NM_000322.5
p.N244K
c.732C>G
27 papers
NM_000322.5
p.N244K
c.732C>A
4 papers
NM_000322.5
p.L245insFs
c.734dupT
2 papers
NM_000322.5
p.E242G
c.725A>G
9 papers
NM_000322.5
p.W246R
c.736T>C
8 papers
NM_000322.5
p.W246R
c.736T>A
1 paper
NM_000322.5
p.N244_W246delins
c.730_736delinsCAGCTCC
3 papers
NM_000322.5
p.N244_W246Fs
c.730_736delinsCAGCTCCTCCAGACGGGTGCACCAGACFs
2 papers
NM_000322.5
p.W246fs
c.736_737fs
1 paper
NM_000322.5
p.T240_E241del2
c.718_722del6
1 paper
NM_000322.5
p.A232_E241delFs
c.694_722del29
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."