Varaico: Literature-Extracted Genetic Variants

Gene:MRC1
Variant:p.S288C

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
8 papers
NM_002438.4
p.S288C
c.862A>T
Surrounding Variants
1 paper
NM_002438.4
p.S288delFs
c.862_863delAG
1 paper
NM_002438.4
p.N287_S288delFs
c.861_864del4
1 paper
NM_002438.4
p.G289_W290del2
c.865_869del6
1 paper
NM_002438.4
p.S285I
c.854G>T
1 paper
NM_002438.4
p.S285_F286insA
c.853_857ins3
4 papers
NM_002438.4
p.W292R
c.874T>A
1 paper
NM_002438.4
p.D294D
c.882C>T
1 paper
NM_002438.4
p.R295H
c.884G>A
1 paper
NM_002438.4
p.R299Q
c.896G>A
1 paper
NM_002438.4
p.G276_L277insC
c.826_830ins3
1 paper
NM_002438.4
p.L301delFs
c.902delT
1 paper
NM_002438.4
p.L301F
c.903G>T
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