Varaico: Literature-Extracted Genetic Variants

Gene:CDH16
Variant:p.L191F

CDH16

68 papers

RefSeq Summary

This gene is a member of the cadherin superfamily, genes encoding calcium-dependent, membrane-associated glycoproteins. Mapped to a previously identified cluster of cadherin genes on chromosome 16q22....

Pfam Domains

Cadherinaa 25–117UCSCCadherin domain
Cadherinaa 257–327UCSCCadherin domain
Cadherinaa 341–440UCSCCadherin domain
Cadherinaa 456–556UCSCCadherin domain

Gene Aliases

HGNC Name

cadherin 16

HGNC Previous Name

cadherin 16, KSP-cadherin

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004062.4
p.L191F
c.571C>T
Surrounding Variants
2 papers
NM_004062.4
p.A190T
c.568G>A
1 paper
NM_004062.4
p.A188D
c.563C>A
1 paper
NM_004062.4
p.P156T
c.466C>A
1 paper
NM_004062.4
p.R140T
c.419G>C
1 paper
NM_004062.4
p.S136N
c.407G>A
1 paper
NM_004062.4
p.Q128P
c.383A>C
1 paper
NM_004062.4
p.V105I
c.313G>A
1 paper
NM_004062.4
p.L241P
c.722T>C
1 paper
NM_004062.4
p.M100L
c.298A>T
2 papers
NM_004062.4
p.H257Y
c.769C>T
1 paper
NM_004062.4
p.L84L
c.250C>T
1 paper
NM_004062.4
p.A83V
c.248C>T
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