Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.W246C

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
5 papers
NM_000322.5
p.W246C
c.738G>T
Surrounding Variants
1 paper
NM_000322.5
p.L245_W246insFs
c.734_737dup4
5 papers
NM_000322.5
p.W246C
c.738G>C
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
4 papers
NM_000322.5
p.L245insFs
c.734dupT
2 papers
NM_000322.5
p.R248fs
c.742_743fs
1 paper
NM_000322.5
p.R248G
c.742C>G
2 papers
NM_000322.5
p.W246_V247insFs
c.738_741dup4
3 papers
NM_000322.5
p.R248S
c.742C>A
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