Varaico: Literature-Extracted Genetic Variants

Gene:RCVRN
Variant:p.A105V

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
Selected Variant
1 paper
NM_002903.3
p.A105V
c.314C>T
Surrounding Variants
2 papers
NM_002903.3
p.Y109Y
c.327C>T
1 paper
NM_002903.3
p.G113S
c.337G>A
1 paper
NM_002903.3
p.A95T
c.283G>A
1 paper
NM_002903.3
p.T94N
c.281C>A
1 paper
NM_002903.3
p.H91Q
c.273C>A
2 papers
NM_002903.3
p.E121Q
c.361G>C
1 paper
NM_002903.3
p.A89T
c.265G>A
1 paper
NM_002903.3
p.V122A
c.365T>C
7 papers
NM_002903.3
p.E85Q
c.253G>C
1 paper
NM_002903.3
p.D78N
c.232G>A
1 paper
NM_002903.3
p.R71C
c.211C>T
1 paper
NM_002903.3
p.F70delFs
c.209delA
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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."