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.H1583_A1584del2

c.4747_4751del6

Surrounding Variants

1 paper

NM_001388459.1

p.H1583_A1584del1

c.4748_4750delATG

1 paper

NM_001388459.1

p.S1668R

c.5004C>A

1 paper

NM_001388459.1

p.S1488N

c.4463G>A

1 paper

NM_001388459.1

p.E1481K

c.4441G>A

1 paper

NM_001388459.1

p.V1454insFs

c.4360_4361insA

1 paper

NM_001388459.1

p.T1752R

c.5255C>G

1 paper

NM_001388459.1

p.P1756S

c.5266C>T

1 paper

NM_001388459.1

p.S1758_T1763del0

c.5272_5289del18

1 paper

NM_001388459.1

p.T1763_V1764ins1

c.5289_5290insGAG

1 paper

NM_001388459.1

p.V1764ins1

c.5291_5292insAGT

1 paper

NM_001388459.1

p.V1764delins

c.5290delinsCAGT

2 papers

NM_001388459.1

p.V1764ins1

c.5290_5291insAGT