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.S23T

c.67T>A

Surrounding Variants

2 papers

NM_001184825.2

p.E41Q

c.121G>C

1 paper

NM_001184825.2

p.E41K

c.121G>A

1 paper

NM_001184825.2

p.T43P

c.127A>C

1 paper

NM_001184825.2

p.S46S

c.138C>T

1 paper

NM_001184825.2

p.E47K

c.139G>A

1 paper

NM_001184825.2

p.Y68*

c.204C>G

1 paper

NM_001184825.2

p.Y68*

c.204C>A

1 paper

NM_001184825.2

p.D74N

c.220G>A

1 paper

NM_001184825.2

p.T80I

c.239C>T

1 paper

NM_001184825.2

p.T100delFs

c.298delT

1 paper

NM_001184825.2

p.T100fs

c.298_299fs

1 paper

NM_001184825.2

p.G118R

c.352G>C