Varaico: Literature-Extracted Genetic Variants

CAPRIN2

28 papers

RefSeq Summary

The protein encoded by this gene may regulate the transport of mRNA. It may play a role in the differentiation of erythroblasts. Multiple transcript variants encoding different isoforms have been foun...

Pfam Domains

Caprin-1_dimeraa 119–234UCSCCaprin-1 dimerization domain

Caprin-1_dimeraa 200–315UCSCCaprin-1 dimerization domain

Caprin-1_Caa 287–601UCSCCytoplasmic activation/proliferation-associated protein-1 C term

C1qaa 897–1022UCSCC1q domain

Gene Aliases

HGNC Name

caprin family member 2

HGNC Previous Symbol

C1QDC1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001385503.1

p.Q196R

c.587A>G

Surrounding Variants

1 paper

NM_001385503.1

p.F201V

c.601T>G

2 papers

NM_001385503.1

p.K156R

c.467A>G

1 paper

NM_001385503.1

p.L227F

c.681G>T

1 paper

NM_001385503.1

p.L227F

c.681G>C

1 paper

NM_001385503.1

p.K245R

c.734A>G

1 paper

NM_001385503.1

p.E337D

c.1011G>T

1 paper

NM_001385503.1

p.E337D

c.1011G>C

1 paper

NM_001385503.1

p.T365T

c.1095C>T

1 paper

NM_001385503.1

p.L106*

c.317T>A

2 papers

NM_001385503.1

p.L534V

c.1600T>G