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.A107T

c.319G>A

Surrounding Variants

1 paper

NM_003619.4

p.E114G

c.341A>G

1 paper

NM_003619.4

p.E97*

c.289G>T

1 paper

NM_003619.4

p.P141insFs

c.422_423insT

1 paper

NM_003619.4

p.P147L

c.440C>T

2 papers

NM_003619.4

p.R55T

c.164G>C

1 paper

NM_003619.4

p.P54S

c.160C>T

1 paper

NM_003619.4

p.G13R

c.37G>C

1 paper

NM_003619.4

p.G13R

c.37G>A

1 paper

NM_003619.4

p.L10M

c.28C>A