Varaico: Literature-Extracted Genetic Variants

Gene:KRTDAP
Variant:p.E42*

KRTDAP

6 papers

RefSeq Summary

This gene encodes a protein which may function in the regulation of keratinocyte differentiation and maintenance of stratified epithelia. Multiple transcript variants encoding different isoforms have ...

Pfam Domains

KRTDAPaa 18–99UCSCKeratinocyte differentiation-associated

Gene Aliases

HGNC Name

keratinocyte differentiation associated protein

HGNC Alias Symbols

KDAP; UNQ467

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_207392.3
p.E42*
c.124G>T
Surrounding Variants
1 paper
NM_207392.3
p.E42_A43Splc
c.126+35G>T
1 paper
NM_207392.3
p.G90R
c.268G>C
1 paper
NM_207392.3
p.G90R
c.268G>A
1 paper
NM_207392.3
p.L17F
c.49C>T
2 papers
NM_207392.3
p.V10M
c.28G>A
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