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

1 paper

NM_002902.3

p.K72R

c.215A>G

Surrounding Variants

1 paper

NM_002902.3

p.L57I

c.169C>A

1 paper

NM_002902.3

p.Y54H

c.160T>C

1 paper

NM_002902.3

p.V47fs

c.139_140fs

1 paper

NM_002902.3

p.E42K

c.124G>A

1 paper

NM_002902.3

p.E26D

c.78G>C

1 paper

NM_002902.3

p.E26D

c.78G>T

1 paper

NM_002902.3

p.E26G

c.77A>G

1 paper

NM_002902.3

p.Q105E

c.313C>G

1 paper

NM_002902.3

p.E108G

c.323A>G

2 papers

NM_002902.3

p.V117G

c.350T>G