Varaico: Literature-Extracted Genetic Variants

Gene:PPHLN1
Variant:p.M1T

PPHLN1

33 papers

RefSeq Summary

The protein encoded by this gene is one of the several proteins that become sequentially incorporated into the cornified cell envelope during the terminal differentiation of keratinocyte at the outer ...

Pfam Domains

Periphilin_Caa 156–237UCSCPeriphilin C-terminal domain

Gene Aliases

HGNC Name

periphilin 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_201439.2
p.M1T
c.2T>C
Surrounding Variants
1 paper
NM_201439.2
p.R6Q
c.17G>A
1 paper
NM_201439.2
p.Y7C
c.20A>G
1 paper
NM_201439.2
p.Y9H
c.25T>C
1 paper
NM_201439.2
p.R11T
c.32G>C
1 paper
NM_201439.2
p.S21delFs
c.62_63delGT
1 paper
NM_201439.2
p.H22insFs
c.65_66insCC
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