Varaico: Literature-Extracted Genetic Variants

Gene:RCVRN

RCVRN

71 papers

RefSeq Summary

This gene encodes a member of the recoverin family of neuronal calcium sensors. The encoded protein contains three calcium-binding EF-hand domains and may prolong the termination of the phototransduct...

Pfam Domains

EF-hand_8aa 40–93UCSCEF-hand domain pair
EF-hand_7aa 99–177UCSCEF-hand domain pair

Gene Aliases

HGNC Name

recoverin

HGNC Previous Symbol

RCV1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 45 variants
7 papers
NM_002903.3
p.E85Q
c.253G>C
2 papers
NM_002903.3
p.G2R
c.4G>A
2 papers
NM_002903.3
p.Y109Y
c.327C>T
2 papers
NM_002903.3
p.E121Q
c.361G>C
2 papers
NM_002903.3
p.D144_E145del0
c.430_435del6
1 paper
NM_002903.3
p.G2R
c.4G>C
1 paper
NM_002903.3
p.G2E
c.5G>A
1 paper
NM_002903.3
p.N3I
c.8A>T
1 paper
NM_002903.3
p.N3K
c.9C>G
1 paper
NM_002903.3
p.N3K
c.9C>A
1 paper
NM_002903.3
p.K5Q
c.13A>C
1 paper
NM_002903.3
p.A8T
c.22G>A
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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."