Varaico: Literature-Extracted Genetic Variants

Gene:CDH15
Variant:p.K103R

CDH15

123 papers

RefSeq Summary

This gene is a member of the cadherin superfamily of genes, encoding calcium-dependent intercellular adhesion glycoproteins. Cadherins consist of an extracellular domain containing 5 cadherin domains,...

Pfam Domains

Cadherinaa 50–143UCSCCadherin domain
Cadherinaa 157–251UCSCCadherin domain
Cadherinaa 266–367UCSCCadherin domain
Cadherinaa 380–474UCSCCadherin domain
CADH_Y-type_LIRaa 722–781UCSCCadherin, Y-type LIR-motif

Gene Aliases

HGNC Name

cadherin 15

HGNC Previous Symbol

CDH14

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004933.3
p.K103R
c.308A>G
Surrounding Variants
2 papers
NM_004933.3
p.D98N
c.292G>A
1 paper
NM_004933.3
p.I97I
c.291C>T
1 paper
NM_004933.3
p.M109T
c.326T>C
1 paper
NM_004933.3
p.F95L
c.285C>A
2 papers
NM_004933.3
p.R112C
c.334C>T
1 paper
NM_004933.3
p.E113*
c.337G>T
3 papers
NM_004933.3
p.R92W
c.274C>T
1 paper
NM_004933.3
p.E90*
c.268G>T
2 papers
NM_004933.3
p.D88D
c.264T>C
1 paper
NM_004933.3
p.Q74delFs
c.221delA
1 paper
NM_004933.3
p.P62S
c.184C>T
1 paper
NM_004933.3
p.L61L
c.183C>T
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