Varaico: Literature-Extracted Genetic Variants

HM13

194 papers

RefSeq Summary

The protein encoded by this gene, which localizes to the endoplasmic reticulum, catalyzes intramembrane proteolysis of some signal peptides after they have been cleaved from a preprotein. This activit...

Pfam Domains

Peptidase_A22Baa 62–138UCSCSignal peptide peptidase

Peptidase_A22Baa 62–350UCSCSignal peptide peptidase

Gene Aliases

HGNC Name

histocompatibility minor 13

HGNC Alias Symbols

H13; dJ324O17.1; PSL3; IMP1; IMPAS; PSENL3; SPPL1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_178581.3

p.Q144*

c.430C>T

Surrounding Variants

1 paper

NM_178581.3

p.L141F

c.421C>T

1 paper

NM_178581.3

p.G147A

c.440G>C

1 paper

NM_178581.3

p.G147V

c.440G>T

1 paper

NM_178581.3

p.K150Q

c.448A>C

1 paper

NM_178581.3

p.E151K

c.451G>A

2 papers

NM_178581.3

p.P123L

c.368C>T

1 paper

NM_178581.3

p.Y156_E157insG

c.466_470ins3

1 paper

NM_178581.3

p.K161R

c.482A>G

1 paper

NM_178581.3

p.L163P

c.488T>C

2 papers

NM_178581.3

p.L166P

c.497T>C

1 paper

NM_178581.3

p.G173G

c.519C>T

1 paper

NM_178581.3

p.E198K

c.592G>A