Varaico: Literature-Extracted Genetic Variants

MASP1

215 papers

RefSeq Summary

This gene encodes a serine protease that functions as a component of the lectin pathway of complement activation. The complement pathway plays an essential role in the innate and adaptive immune respo...

Pfam Domains

CUBaa 20–135UCSCCUB domain

CUBaa 185–294UCSCCUB domain

Sushiaa 301–362UCSCSushi repeat (SCR repeat)

Sushiaa 367–432UCSCSushi repeat (SCR repeat)

Trypsinaa 449–691UCSCTrypsin

Gene Aliases

HGNC Name

MBL associated serine protease 1

HGNC Previous Symbol

CRARF

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_139125.4

p.C630*

c.1890C>A

Surrounding Variants

1 paper

NM_139125.4

p.C630Y

c.1889G>A

6 papers

NM_139125.4

p.C630R

c.1888T>C

1 paper

NM_139125.4

p.A628D

c.1883C>A

1 paper

NM_139125.4

p.Y634C

c.1901A>G

2 papers

NM_139125.4

p.R637fs

c.1909_1910fs

1 paper

NM_139125.4

p.R637L

c.1910G>T

1 paper

NM_139125.4

p.R637_S638del2

c.1909_1913del6

2 papers

NM_139125.4

p.L617L

c.1851G>A

7 papers

NM_139125.4

p.T644M

c.1931C>T

1 paper

NM_139125.4

p.V616A

c.1847T>C

1 paper

NM_139125.4

p.F648L

c.1942T>C

1 paper

NM_139125.4

p.F648L

c.1944C>G