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

1–12 of 135 variants

4 papers

NM_006039.5

p.V43I

c.127G>A

3 papers

NM_006039.5

p.R1156H

c.3467G>A

2 papers

NM_006039.5

p.K143Q

c.427A>C

2 papers

NM_006039.5

p.H173Y

c.517C>T

2 papers

NM_006039.5

p.T526M

c.1577C>T

2 papers

NM_006039.5

p.D778N

c.2332G>A

2 papers

NM_006039.5

p.F979V

c.2935T>G

2 papers

NM_006039.5

p.E990G

c.2969A>G

2 papers

NM_006039.5

p.Q1006*

c.3016C>T

2 papers

NM_006039.5

p.P1124delFs

c.3372delC

2 papers

NM_006039.5

p.P1124fs

c.3370_3371fs

2 papers

NM_006039.5

p.D1307E

c.3921T>A