Varaico: Literature-Extracted Genetic Variants

CD320

81 papers

RefSeq Summary

This gene encodes the transcobalamin receptor that is expressed at the cell surface. It mediates the cellular uptake of transcobalamin bound cobalamin (vitamin B12), and is involved in B-cell prolifer...

Pfam Domains

Ldl_recept_aaa 52–89UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 130–167UCSCLow-density lipoprotein receptor domain class A

Gene Aliases

HGNC Name

CD320 molecule

HGNC Alias Symbols

8D6; 8D6A; TCblR; TCN2R; sCD320; TCII-R

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_016579.4

p.Q96K

c.286C>A

Surrounding Variants

1 paper

NM_016579.4

p.Q96*

c.286C>T

1 paper

NM_016579.4

p.P93T

c.277C>A

2 papers

NM_016579.4

p.Q99delFs

c.297delT

1 paper

NM_016579.4

p.I91insFs

c.271dupA

1 paper

NM_016579.4

p.R90_I91insFs

c.270_271insA

3 papers

NM_016579.4

p.P107L

c.320C>T

1 paper

NM_016579.4

p.G112fs

c.334_335fs

1 paper

NM_016579.4

p.K122Q

c.364A>C

1 paper

NM_016579.4

p.R125H

c.374G>A

2 papers

NM_016579.4

p.R129L

c.386G>T

1 paper

NM_016579.4

p.G135C

c.403G>T

1 paper

NM_016579.4

p.R138C

c.412C>T