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

1–12 of 60 variants

2 papers

NM_001184825.2

p.E41Q

c.121G>C

2 papers

NM_001184825.2

p.P149L

c.446C>T

2 papers

NM_001184825.2

p.L235L

c.705C>T

2 papers

NM_001184825.2

p.R382C

c.1144C>T

2 papers

NM_001184825.2

p.S405I

c.1214G>T

1 paper

NM_001184825.2

p.T3P

c.7A>C

1 paper

NM_001184825.2

p.G2_T3delins

c.6_7delinsGC

1 paper

NM_001184825.2

p.S23T

c.67T>A

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