Varaico: Literature-Extracted Genetic Variants

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

1 paper

NM_001388459.1

p.F228_R229del1

c.683_685delTCC

Surrounding Variants

1 paper

NM_001388459.1

p.P211del1

c.631_633delCCC

1 paper

NM_001388459.1

p.D164N

c.490G>A

1 paper

NM_001388459.1

p.A332T

c.994G>A

1 paper

NM_001388459.1

p.A112T

c.334G>A

1 paper

NM_001388459.1

p.Q351P

c.1052A>C