Varaico: Literature-Extracted Genetic Variants

PSG1

55 papers

RefSeq Summary

The human placenta is a multihormonal endocrine organ that produces hormones, enzymes, and other molecules that support fetal survival and development. Pregnancy-specific beta-1-glycoprotein (PSBG, PS...

Pfam Domains

V-setaa 38–141UCSCImmunoglobulin V-set domain

V-setaa 38–144UCSCImmunoglobulin V-set domain

Ig_3aa 148–220UCSCImmunoglobulin domain

Ig_3aa 148–221UCSCImmunoglobulin domain

Ig_2aa 241–320UCSCImmunoglobulin domain

Gene Aliases

HGNC Name

pregnancy specific beta-1-glycoprotein 1

HGNC Previous Symbol

PSBG1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001184825.2

p.A225V

c.674C>T

Surrounding Variants

1 paper

NM_001184825.2

p.D229V

c.686A>T

1 paper

NM_001184825.2

p.S226_V231delFs

c.677_693del17

2 papers

NM_001184825.2

p.L235L

c.705C>T

1 paper

NM_001184825.2

p.P214P

c.642C>T

1 paper

NM_001184825.2

p.P237Splc

c.709+1G>A

1 paper

NM_001184825.2

p.Q185*

c.553C>T

1 paper

NM_001184825.2

p.Y178S

c.533A>C

1 paper

NM_001184825.2

p.S177I

c.530G>T

1 paper

NM_001184825.2

p.A176E

c.527C>A

1 paper

NM_001184825.2

p.T168S

c.502A>T

1 paper

NM_001184825.2

p.E160K

c.478G>A

2 papers

NM_001184825.2

p.P149L

c.446C>T