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.M403I

c.1209G>A

Surrounding Variants

1 paper

NM_006610.4

p.M403I

c.1209G>T

1 paper

NM_006610.4

p.M403I

c.1209G>C

1 paper

NM_006610.4

p.M403L

c.1207A>T

1 paper

NM_006610.4

p.M403L

c.1207A>C

2 papers

NM_006610.4

p.V405M

c.1213G>A

1 paper

NM_006610.4

p.T399T

c.1197C>A

1 paper

NM_006610.4

p.T399I

c.1196C>T

5 papers

NM_006610.4

p.C396Y

c.1187G>A

1 paper

NM_006610.4

p.Y394*

c.1182C>G

1 paper

NM_006610.4

p.Y394*

c.1182C>A

2 papers

NM_006610.4

p.T381I

c.1142C>T

1 paper

NM_006610.4

p.Y379Y

c.1137C>T