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.V862delFs

c.2584delC

Surrounding Variants

1 paper

NM_003619.4

p.A864T

c.2590G>A

1 paper

NM_003619.4

p.F865S

c.2594T>C

1 paper

NM_003619.4

p.G835R

c.2503G>C

1 paper

NM_003619.4

p.G835R

c.2503G>A

4 papers

NM_003619.4

p.R833Q

c.2498G>A

1 paper

NM_003619.4

p.M830del1

c.2488_2489delCAT

1 paper

NM_003619.4

p.M830fs

c.2488_2489fs

1 paper

NM_003619.4

p.G826R

c.2476G>C

1 paper

NM_003619.4

p.G826R

c.2476G>A

1 paper

NM_003619.4

p.R817R

c.2451C>T

1 paper

NM_003619.4

p.R801Q

c.2402G>A

5 papers

NM_003619.4

p.R797C

c.2389C>T