Varaico: Literature-Extracted Genetic Variants

RCN2

40 papers

RefSeq Summary

The protein encoded by this gene 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...

Pfam Domains

EF-hand_5aa 66–90UCSCEF hand

EF-hand_5aa 191–212UCSCEF hand

EF-hand_7aa 233–291UCSCEF-hand domain pair

Gene Aliases

HGNC Name

reticulocalbin 2

HGNC Alias Symbols

ERC-55; E6BP; ERC55; TCBP49

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_002902.3

p.K149_L150Splc

c.448-2A>G

Surrounding Variants

1 paper

NM_002902.3

p.R157*

c.469C>T

1 paper

NM_002902.3

p.K149_L150Splc

c.448-738C>T

1 paper

NM_002902.3

p.D199E

c.597C>A

1 paper

NM_002902.3

p.D199E

c.597C>G

1 paper

NM_002902.3

p.A268V

c.803C>T

1 paper

NM_002902.3

p.M275I

c.825G>A

1 paper

NM_002902.3

p.M275I

c.825G>C

1 paper

NM_002902.3

p.M275I

c.825G>T

1 paper

NM_002902.3

p.L277L

c.831G>A

1 paper

NM_002902.3

p.S284C

c.851C>G

1 paper

NM_002902.3

p.G304R

c.910G>C

2 papers

NM_002902.3

p.V117G

c.350T>G