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

2 papers

NM_006610.4

p.E329G

c.986A>G

Surrounding Variants

1 paper

NM_006610.4

p.E329K

c.985G>A

1 paper

NM_006610.4

p.F327V

c.979T>G

1 paper

NM_006610.4

p.E333Q

c.997G>C

1 paper

NM_006610.4

p.S323S

c.969C>T

1 paper

NM_006610.4

p.S323R

c.969C>G

1 paper

NM_006610.4

p.S323R

c.969C>A

1 paper

NM_006610.4

p.S323R

c.967A>C

1 paper

NM_006610.4

p.P313P

c.939T>C

1 paper

NM_006610.4

p.S312L

c.935C>T

1 paper

NM_006610.4

p.V311D

c.932T>A

1 paper

NM_006610.4

p.V311I

c.931G>A

1 paper

NM_006610.4

p.H310Q

c.930C>G