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.S346L

c.1037C>T

Surrounding Variants

1 paper

NM_001184825.2

p.R345C

c.1033C>T

1 paper

NM_001184825.2

p.F341L

c.1023C>G

1 paper

NM_001184825.2

p.F341L

c.1023C>A

1 paper

NM_001184825.2

p.F341L

c.1021T>C

1 paper

NM_001184825.2

p.A356V

c.1067C>T

1 paper

NM_001184825.2

p.A356E

c.1067C>A

2 papers

NM_001184825.2

p.R382C

c.1144C>T

1 paper

NM_001184825.2

p.R382H

c.1145G>A

1 paper

NM_001184825.2

p.K387N

c.1161G>T

1 paper

NM_001184825.2

p.K387N

c.1161G>C

1 paper

NM_001184825.2

p.V393A

c.1178T>C

1 paper

NM_001184825.2

p.V396I

c.1186G>A