Varaico: Literature-Extracted Genetic Variants

MRC1

822 papers

RefSeq Summary

The recognition of complex carbohydrate structures on glycoproteins is an important part of several biological processes, including cell-cell recognition, serum glycoprotein turnover, and neutralizati...

Pfam Domains

CysR_MRC2_Naa 21–150UCSCMRC2-like, N-terminal cysteine-rich domain

fn2aa 168–209UCSCFibronectin type II domain

Lectin_Caa 236–342UCSCLectin C-type domain

Lectin_Caa 380–488UCSCLectin C-type domain

Lectin_Caa 521–627UCSCLectin C-type domain

Lectin_Caa 669–779UCSCLectin C-type domain

Gene Aliases

HGNC Name

mannose receptor C-type 1

HGNC Previous Symbol

MRC1L1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002438.4

p.Q248R

c.743A>G

Surrounding Variants

1 paper

NM_002438.4

p.Q248E

c.742C>G

1 paper

NM_002438.4

p.A252V

c.755C>T

4 papers

NM_002438.4

p.R244K

c.731G>A

1 paper

NM_002438.4

p.W240*

c.719G>A

1 paper

NM_002438.4

p.S256_I257insFs

c.768_769insAG

1 paper

NM_002438.4

p.T239M

c.716C>T

1 paper

NM_002438.4

p.A237A

c.711T>A

1 paper

NM_002438.4

p.E259A

c.776A>C

2 papers

NM_002438.4

p.A237G

c.710C>G

1 paper

NM_002438.4

p.E262*

c.784G>T

1 paper

NM_002438.4

p.I232L

c.694A>T

2 papers

NM_002438.4

p.Q231Q

c.693G>A