Varaico: Literature-Extracted Genetic Variants

MASP2

311 papers

RefSeq Summary

This gene encodes a member of the peptidase S1 family of serine proteases. The encoded preproprotein is proteolytically processed to generate A and B chains that heterodimerize to form the mature prot...

Pfam Domains

CUBaa 24–134UCSCCUB domain

EGF_CAaa 138–180UCSCCalcium-binding EGF domain

CUBaa 184–293UCSCCUB domain

Sushiaa 300–361UCSCSushi repeat (SCR repeat)

Sushiaa 366–430UCSCSushi repeat (SCR repeat)

Trypsinaa 445–679UCSCTrypsin

Gene Aliases

HGNC Name

MBL associated serine protease 2

HGNC Previous Symbol

MASP1P1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006610.4

p.D138N

c.412G>A

Surrounding Variants

1 paper

NM_006610.4

p.D140H

c.418G>C

1 paper

NM_006610.4

p.C142Y

c.425G>A

1 paper

NM_006610.4

p.A149V

c.446C>T

1 paper

NM_006610.4

p.P150A

c.448C>G

1 paper

NM_006610.4

p.H154R

c.461A>G

11 papers

NM_006610.4

p.H155R

c.464A>G

12 papers

NM_006610.4

p.C156Y

c.467G>A

1 paper

NM_006610.4

p.H159H

c.477C>T

1 paper

NM_006610.4

p.H159_L160insFs

c.477_478ins5

2 papers

NM_006610.4

p.C156_H159ins1

c.466_477dup12

1 paper

NM_006610.4

p.G162S

c.484G>A

1 paper

NM_006610.4

p.V172L

c.514G>C