Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.K311Q

RHO

2,465 papers

RefSeq Summary

The protein encoded by this gene is found in rod cells in the back of the eye and is essential for vision in low-light conditions. The encoded protein binds to 11-cis retinal and is activated when lig...

Pfam Domains

Rhodopsin_Naa 2–37UCSCAmino terminal of the G-protein receptor rhodopsin
7tm_1aa 54–306UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

rhodopsin

HGNC Previous Symbol

RP4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000539.3
p.K311Q
c.931A>C
Surrounding Variants
8 papers
NM_000539.3
p.K311E
c.931A>G
1 paper
NM_000539.3
p.K311*
c.931A>T
2 papers
NM_000539.3
p.K311R
c.932A>G
1 paper
NM_000539.3
p.K311_Q312delFs
c.933_936del4
2 papers
NM_000539.3
p.N310K
c.930C>A
2 papers
NM_000539.3
p.N310K
c.930C>G
4 papers
NM_000539.3
p.N310S
c.929A>G
2 papers
NM_000539.3
p.K311K
c.933G>A
1 paper
NM_000539.3
p.K311_Q312Fs
c.933_935delinsTTFs
2 papers
NM_000539.3
p.N310fs
c.928_929fs
1 paper
NM_000539.3
p.N310delins
c.928delinsGAAG
10 papers
NM_000539.3
p.Q312*
c.934C>T
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