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

1–12 of 40 variants

3 papers

NM_001031850.4

p.R165C

c.493C>T

2 papers

NM_001031850.4

p.H85D

c.253C>G

2 papers

NM_001031850.4

p.R126*

c.376C>T

2 papers

NM_001031850.4

p.P236Splc

c.706+1G>A

2 papers

NM_001031850.4

p.R312Q

c.935G>A

1 paper

NM_001031850.4

p.P7L

c.20C>T

1 paper

NM_001031850.4

p.C9Y

c.26G>A

1 paper

NM_001031850.4

p.I38T

c.113T>C

1 paper

NM_001031850.4

p.S46delFs

c.136delA

1 paper

NM_001031850.4

p.S46fs

c.136_137fs

1 paper

NM_001031850.4

p.Y65*

c.195C>G

1 paper

NM_001031850.4

p.Y65*

c.195C>A