Varaico: Literature-Extracted Genetic Variants

PSG6

43 papers

RefSeq Summary

This gene is a member of the pregnancy-specific glycoprotein (PSG) gene family. The PSG genes are a subgroup of the carcinoembryonic antigen (CEA) family of immunoglobulin-like genes, and are found in...

Pfam Domains

V-setaa 38–140UCSCImmunoglobulin V-set domain

Ig_3aa 147–220UCSCImmunoglobulin domain

Ig_2aa 236–327UCSCImmunoglobulin domain

Ig_2aa 333–412UCSCImmunoglobulin domain

Gene Aliases

HGNC Name

pregnancy specific beta-1-glycoprotein 6

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001031850.4

p.P236Splc

c.706+1G>A

Surrounding Variants

1 paper

NM_001031850.4

p.P213L

c.638C>T

1 paper

NM_001031850.4

p.R191K

c.572G>A

1 paper

NM_001031850.4

p.G183V

c.548G>T

1 paper

NM_001031850.4

p.P173Q

c.518C>A

3 papers

NM_001031850.4

p.R165C

c.493C>T

1 paper

NM_001031850.4

p.E162Q

c.484G>C

1 paper

NM_001031850.4

p.P148S

c.442C>T

1 paper

NM_001031850.4

p.S143L

c.428C>T

1 paper

NM_001031850.4

p.V256M

c.766G>A

1 paper

NM_001031850.4

p.E310K

c.928G>A

2 papers

NM_001031850.4

p.R312Q

c.935G>A

1 paper

NM_001031850.4

p.G316S

c.946G>A