Varaico: Literature-Extracted Genetic Variants

PSG4

42 papers

RefSeq Summary

The protein encoded by this gene is a pregnancy-specific glycoprotein (PSG), one of several encoded by a cluster of similar genes on chromosome 19. This gene is a member of the carcinoembryonic antige...

Pfam Domains

V-setaa 38–143UCSCImmunoglobulin 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 4

HGNC Alias Name

pregnancy-specific beta-1-glycoprotein 4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_002780.5

p.L75V

c.223C>G

Surrounding Variants

1 paper

NM_002780.5

p.I66F

c.196A>T

1 paper

NM_002780.5

p.D85D

c.255C>T

1 paper

NM_002780.5

p.G86S

c.256G>A

1 paper

NM_002780.5

p.A63P

c.187G>C

1 paper

NM_002780.5

p.L62V

c.184C>G

1 paper

NM_002780.5

p.R88I

c.263G>T

1 paper

NM_002780.5

p.G97*

c.289G>T

1 paper

NM_002780.5

p.R100T

c.299G>C

1 paper

NM_002780.5

p.S46C

c.137C>G

1 paper

NM_002780.5

p.I38T

c.113T>C

1 paper

NM_002780.5

p.A34fs

c.100_101fs

2 papers

NM_002780.5

p.A34insFs

c.100dupG