Varaico: Literature-Extracted Genetic Variants

Gene:RCN1
Variant:p.V208A

RCN1

30 papers

RefSeq Summary

Reticulocalbin 1 is a calcium-binding protein located in the lumen of the ER. The protein contains six conserved regions with similarity to a high affinity Ca(+2)-binding motif, the EF-hand. High cons...

Pfam Domains

EF-hand_5aa 209–233UCSCEF hand
EF-hand_5aa 250–274UCSCEF hand

Gene Aliases

HGNC Name

reticulocalbin 1

HGNC Alias Symbols

Rcal; PIG20; FLJ37041

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002901.4
p.V208A
c.623T>C
Surrounding Variants
2 papers
NM_002901.4
p.A153T
c.457G>A
1 paper
NM_002901.4
p.N151S
c.452A>G
1 paper
NM_002901.4
p.F117L
c.351T>A
1 paper
NM_002901.4
p.F117L
c.351T>G
1 paper
NM_002901.4
p.F117L
c.349T>C
1 paper
NM_002901.4
p.D96Y
c.286G>T
1 paper
NM_002901.4
p.D92N
c.274G>A
1 paper
NM_002901.4
p.I87V
c.259A>G
1 paper
NM_002901.4
p.G85Splc
c.255-4G>T
1 paper
NM_002901.4
p.W244_V245del2
c.730_734del6
1 paper
NM_002901.4
p.L246F
c.738A>C
1 paper
NM_002901.4
p.L246F
c.738A>T
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