Varaico: Literature-Extracted Genetic Variants

MRC2

109 papers

RefSeq Summary

This gene encodes a member of the mannose receptor family of proteins that contain a fibronectin type II domain and multiple C-type lectin-like domains. The encoded protein plays a role in extracellul...

Pfam Domains

CysR_MRC2_Naa 40–169UCSCMRC2-like, N-terminal cysteine-rich domain

fn2aa 187–228UCSCFibronectin type II domain

Lectin_Caa 255–361UCSCLectin C-type domain

Lectin_Caa 399–506UCSCLectin C-type domain

Lectin_Caa 538–646UCSCLectin C-type domain

Lectin_Caa 693–810UCSCLectin C-type domain

Gene Aliases

HGNC Name

mannose receptor C-type 2

HGNC Alias Symbols

KIAA0709; ENDO180; CLEC13E; CD280

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006039.5

p.V619M

c.1855G>A

Surrounding Variants

1 paper

NM_006039.5

p.C644Y

c.1931G>A

1 paper

NM_006039.5

p.G649S

c.1945G>A

1 paper

NM_006039.5

p.S597R

c.1791T>A

1 paper

NM_006039.5

p.S597R

c.1791T>G

1 paper

NM_006039.5

p.S597R

c.1789A>C

1 paper

NM_006039.5

p.G591S

c.1771G>A

1 paper

NM_006039.5

p.G577G

c.1731C>T

1 paper

NM_006039.5

p.C704S

c.2110T>A

1 paper

NM_006039.5

p.C704S

c.2111G>C

1 paper

NM_006039.5

p.G708A

c.2123G>C

1 paper

NM_006039.5

p.V723L

c.2167G>C

1 paper

NM_006039.5

p.V723L

c.2167G>T