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.L30Q

c.89T>A

Surrounding Variants

3 papers

NM_006610.4

p.G28E

c.83G>A

1 paper

NM_006610.4

p.S32S

c.96C>A

1 paper

NM_006610.4

p.G34D

c.101G>A

1 paper

NM_006610.4

p.V26L

c.76G>T

1 paper

NM_006610.4

p.V26L

c.76G>C

1 paper

NM_006610.4

p.G37E

c.110G>A

1 paper

NM_006610.4

p.A40V

c.119C>T

1 paper

NM_006610.4

p.A40D

c.119C>A

3 papers

NM_006610.4

p.L18L

c.54G>A

1 paper

NM_006610.4

p.Q43Q

c.129G>A

2 papers

NM_006610.4

p.R45W

c.133C>T

1 paper

NM_006610.4

p.S13L

c.38C>T