Varaico: Literature-Extracted Genetic Variants

PRSS12

75 papers

RefSeq Summary

This gene encodes a member of the trypsin family of serine proteases and contains a signal peptide, a proline-rich region, a Kringle domain, four scavenger receptor cysteine-rich domains, and a trypsi...

Pfam Domains

Kringleaa 97–167UCSCKringle domain

SRCRaa 173–270UCSCScavenger receptor cysteine-rich domain

SRCRaa 283–380UCSCScavenger receptor cysteine-rich domain

SRCRaa 390–486UCSCScavenger receptor cysteine-rich domain

SRCRaa 503–600UCSCScavenger receptor cysteine-rich domain

Trypsinaa 631–869UCSCTrypsin

Gene Aliases

HGNC Name

serine protease 12

HGNC Alias Symbols

BSSP-3; MRT1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003619.4

p.L227L

c.679C>T

Surrounding Variants

1 paper

NM_003619.4

p.G217E

c.650G>A

1 paper

NM_003619.4

p.E243K

c.727G>A

1 paper

NM_003619.4

p.W254R

c.760T>C

1 paper

NM_003619.4

p.V258L

c.772G>T

1 paper

NM_003619.4

p.V258L

c.772G>C

1 paper

NM_003619.4

p.M263insFs

c.787_788insC

1 paper

NM_003619.4

p.M263I

c.789G>T

1 paper

NM_003619.4

p.M263I

c.789G>C

1 paper

NM_003619.4

p.M263I

c.789G>A

1 paper

NM_003619.4

p.A264T

c.790G>A

1 paper

NM_003619.4

p.G214insFs

c.641_642insC

1 paper

NM_003619.4

p.G175S

c.523G>A