Varaico: Literature-Extracted Genetic Variants

Gene:MRC1
Variant:p.K469_D470Splc

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.K469_D470Splc
c.1407+41C>T
Surrounding Variants
1 paper
NM_002438.4
p.V465G
c.1394T>G
1 paper
NM_002438.4
p.R459_Q460insFs
c.1377_1378insA
1 paper
NM_002438.4
p.N458fs
c.1372_1373fs
1 paper
NM_002438.4
p.E456K
c.1366G>A
1 paper
NM_002438.4
p.S454_H455insC
c.1360_1364ins3
2 papers
NM_002438.4
p.P453Q
c.1358C>A
1 paper
NM_002438.4
p.G451delFs
c.1351delG
1 paper
NM_002438.4
p.L449L
c.1347T>A
2 papers
NM_002438.4
p.L449P
c.1346T>C
5 papers
NM_002438.4
p.T441T
c.1323C>T
1 paper
NM_002438.4
p.E421_L422insT
c.1261_1265ins3
1 paper
NM_002438.4
p.K469_D470Splc
c.1408-2A>C
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