Varaico: Literature-Extracted Genetic Variants

Gene:CNST
Variant:p.R441H

CNST

75 papers

RefSeq Summary

Targeting of numerous transmembrane proteins to the cell surface is thought to depend on their recognition by cargo receptors that interact with the adaptor machinery for anterograde traffic at the di...

Pfam Domains

Consortin_Naa 185–236UCSCConsortin, N-terminal domain
Consortin_Caa 612–723UCSCConsortin C-terminus

Gene Aliases

HGNC Name

consortin, connexin sorting protein

HGNC Previous Symbol

C1orf71

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_152609.3
p.R441H
c.1322G>A
Surrounding Variants
1 paper
NM_152609.3
p.G438S
c.1312G>A
1 paper
NM_152609.3
p.K430Q
c.1288A>C
1 paper
NM_152609.3
p.Q456E
c.1366C>G
1 paper
NM_152609.3
p.D420N
c.1258G>A
1 paper
NM_152609.3
p.R465W
c.1393C>T
1 paper
NM_152609.3
p.A412A
c.1236C>T
1 paper
NM_152609.3
p.P472A
c.1414C>G
2 papers
NM_152609.3
p.R399C
c.1195C>T
1 paper
NM_152609.3
p.D488Y
c.1462G>T
1 paper
NM_152609.3
p.D488G
c.1463A>G
1 paper
NM_152609.3
p.L489fs
c.1465_1466fs
1 paper
NM_152609.3
p.S503*
c.1508C>A
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