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

2 papers

NM_006039.5

p.F979V

c.2935T>G

Surrounding Variants

1 paper

NM_006039.5

p.C950Y

c.2849G>A

1 paper

NM_006039.5

p.L943P

c.2828T>C

1 paper

NM_006039.5

p.E935K

c.2803G>A

1 paper

NM_006039.5

p.V928M

c.2782G>A

1 paper

NM_006039.5

p.R899L

c.2696G>T

1 paper

NM_006039.5

p.D870A

c.2609A>C

1 paper

NM_006039.5

p.S865R

c.2595C>A

1 paper

NM_006039.5

p.S865R

c.2595C>G

1 paper

NM_006039.5

p.S865R

c.2593A>C

1 paper

NM_006039.5

p.R826Q

c.2477G>A

2 papers

NM_006039.5

p.D778N

c.2332G>A

1 paper

NM_006039.5

p.D781del1

c.2341_2343delGAC