Varaico: Literature-Extracted Genetic Variants

Gene:RCVRN
Variant:p.D165Splc

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.D165Splc
c.493+1G>A
Surrounding Variants
1 paper
NM_002903.3
p.D164A
c.491A>C
1 paper
NM_002903.3
p.E153A
c.458A>C
1 paper
NM_002903.3
p.R151G
c.451C>G
1 paper
NM_002903.3
p.E149Q
c.445G>C
2 papers
NM_002903.3
p.D144_E145del0
c.430_435del6
1 paper
NM_002903.3
p.D144_E145del1
c.432_434delTCA
1 paper
NM_002903.3
p.A128D
c.383C>A
1 paper
NM_002903.3
p.L167R
c.500T>G
1 paper
NM_002903.3
p.E169A
c.506A>C
1 paper
NM_002903.3
p.Q187H
c.561G>T
1 paper
NM_002903.3
p.Q187H
c.561G>C
1 paper
NM_002903.3
p.V193G
c.578T>G
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