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.T480S

c.1438A>T

Surrounding Variants

1 paper

NM_006610.4

p.W477_V478ins5

c.1429_1433ins15

1 paper

NM_006610.4

p.L472F

c.1414C>T

1 paper

NM_006610.4

p.A492T

c.1474G>A

2 papers

NM_006610.4

p.S493S

c.1479C>T

1 paper

NM_006610.4

p.K503Q

c.1507A>C

1 paper

NM_006610.4

p.A451V

c.1352C>T

1 paper

NM_006610.4

p.K450Q

c.1348A>C

1 paper

NM_006610.4

p.G448G

c.1344G>A

1 paper

NM_006610.4

p.W513C

c.1539G>T

1 paper

NM_006610.4

p.W513C

c.1539G>C

1 paper

NM_006610.4

p.R444C

c.1330C>T

1 paper

NM_006610.4

p.I519K

c.1556T>A