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.L54R

c.161T>G

Surrounding Variants

1 paper

NM_002783.3

p.L53I

c.157C>A

1 paper

NM_002783.3

p.N57K

c.171T>G

1 paper

NM_002783.3

p.N57K

c.171T>A

1 paper

NM_002783.3

p.N61fs

c.181_182fs

1 paper

NM_002783.3

p.Q60delFs

c.180delC

1 paper

NM_002783.3

p.G64D

c.191G>A

1 paper

NM_002783.3

p.W67S

c.200G>C

2 papers

NM_002783.3

p.I83V

c.247A>G

1 paper

NM_002783.3

p.Q87delFs

c.261delT

1 paper

NM_002783.3

p.A94V

c.281C>T

5 papers

NM_002783.3

p.R98*

c.292C>T

1 paper

NM_002783.3

p.T100K

c.299C>A