Varaico: Literature-Extracted Genetic Variants

Gene:CDH17
Variant:p.I2Fs

CDH17

1,477 papers

RefSeq Summary

This gene is a member of the cadherin superfamily, genes encoding calcium-dependent, membrane-associated glycoproteins. The encoded protein is cadherin-like, consisting of an extracellular region, con...

Pfam Domains

Cadherinaa 131–235UCSCCadherin domain
Cadherinaa 243–331UCSCCadherin domain
Cadherinaa 345–440UCSCCadherin domain
Cadherinaa 456–558UCSCCadherin domain
Cadherinaa 571–657UCSCCadherin domain

Gene Aliases

HGNC Name

cadherin 17

HGNC Alias Symbols

HPT-1; cadherin

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004063.4
p.I2Fs
c.5delinsTTAGAFs
Surrounding Variants
1 paper
NM_004063.4
p.I2Fs
c.5delinsTTAFs
1 paper
NM_004063.4
p.L3F
c.7C>T
1 paper
NM_004063.4
p.L3V
c.7C>G
1 paper
NM_004063.4
p.I2insFs
c.5_6ins4
1 paper
NM_004063.4
p.L3P
c.8T>C
1 paper
NM_004063.4
p.L3H
c.8T>A
1 paper
NM_004063.4
p.I2Fs
c.4delinsGTFs
1 paper
NM_004063.4
p.I2L
c.4A>C
1 paper
NM_004063.4
p.I2insFs
c.4_5insC
1 paper
NM_004063.4
p.L3_Q4insFs
c.9_10insG
1 paper
NM_004063.4
p.M1I
c.3G>T
5 papers
NM_004063.4
p.M1insFs
c.2_3insT
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."