Varaico: Literature-Extracted Genetic Variants

Gene:ROM1
Variant:p.G113insFs

ROM1

183 papers

RefSeq Summary

This gene is a member of a photoreceptor-specific gene family and encodes an integral membrane protein found in the photoreceptor disk rim of the eye. This protein can form homodimers or can heterodim...

Pfam Domains

Tetraspaninaa 17–291UCSCTetraspanin family

Gene Aliases

HGNC Name

retinal outer segment membrane protein 1

HGNC Alias Symbol

TSPAN23

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
26 papers
NM_000327.4
p.G113insFs
c.339dupG
Surrounding Variants
1 paper
NM_000327.4
p.G110_G111insFs
c.330_331insGG
6 papers
NM_000327.4
p.G113delFs
c.339delG
1 paper
NM_000327.4
p.G111_G112del1
c.333_335delGGG
1 paper
NM_000327.4
p.G111R
c.331G>A
1 paper
NM_000327.4
p.G111R
c.331G>C
1 paper
NM_000327.4
p.G111W
c.331G>T
1 paper
NM_000327.4
p.G110R
c.328G>C
5 papers
NM_000327.4
p.G110fs
c.328_329fs
1 paper
NM_000327.4
p.G111V
c.332G>T
3 papers
NM_000327.4
p.G112R
c.334G>A
1 paper
NM_000327.4
p.G112R
c.334G>C
1 paper
NM_000327.4
p.L114_L121del0
c.342_362del21
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