Varaico: Literature-Extracted Genetic Variants

Gene:FRMPD3
Variant:p.E425*

FRMPD3

47 papers

RefSeq Summary

This gene encodes a protein that contains a PDZ (post synaptic density protein (PSD95), Drosophila disc large tumor suppressor (Dlg1), and zonula occludens-1 protein (zo-1) domain at the N-terminus fo...

Pfam Domains

PDZaa 21–95UCSCPDZ domain
FERM_Maa 102–232UCSCFERM central domain
FERM_C_FAK1aa 241–329UCSCFAK1/PYK2, FERM domain C-lobe

Gene Aliases

HGNC Name

FERM and PDZ domain containing 3

HGNC Alias Symbols

RP5-1070B1.1; KIAA1817

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001388459.1
p.E425*
c.1273G>T
Surrounding Variants
1 paper
NM_001388459.1
p.Q351P
c.1052A>C
1 paper
NM_001388459.1
p.A332T
c.994G>A
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