Varaico: Literature-Extracted Genetic Variants

PSG7

33 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 38–141UCSCImmunoglobulin V-set domain

Ig_3aa 148–221UCSCImmunoglobulin domain

Ig_3aa 241–313UCSCImmunoglobulin domain

Ig_2aa 334–413UCSCImmunoglobulin domain

Gene Aliases

HGNC Name

pregnancy specific beta-1-glycoprotein 7

HGNC Previous Name

pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002783.3

p.N209K

c.627C>A

Surrounding Variants

1 paper

NM_002783.3

p.N209K

c.627C>G

1 paper

NM_002783.3

p.E218K

c.652G>A

1 paper

NM_002783.3

p.R220Q

c.659G>A

1 paper

NM_002783.3

p.E197Q

c.589G>C

1 paper

NM_002783.3

p.H191Y

c.571C>T

1 paper

NM_002783.3

p.S266delFs

c.796delT

1 paper

NM_002783.3

p.S266fs

c.796_797fs

1 paper

NM_002783.3

p.R288*

c.862C>T

1 paper

NM_002783.3

p.R289C

c.865C>T

1 paper

NM_002783.3

p.I337I

c.1011T>A

2 papers

NM_002783.3

p.A356V

c.1067C>T

1 paper

NM_002783.3

p.R397C

c.1189C>T