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

2 papers

NM_001388459.1

p.Q868*

c.2602C>T

Surrounding Variants

1 paper

NM_001388459.1

p.P844P

c.2532C>T

1 paper

NM_032428.2

p.E957G

c.2870A>G

1 paper

NM_001388459.1

p.H792Y

c.2374C>T

1 paper

NM_001388459.1

p.P1013T

c.3037C>A

1 paper

NM_001388459.1

p.P1013fs

c.3037_3038fs

1 paper

NM_001388459.1

p.S1014fs

c.3040_3041fs

1 paper

NM_001388459.1

p.P1092P

c.3276C>T

1 paper

NM_001388459.1

p.A1107V

c.3320C>T

1 paper

NM_001388459.1

p.R1217C

c.3649C>T

1 paper

NM_001388459.1

p.Q1244K

c.3730C>A

1 paper

NM_001388459.1

p.E1266K

c.3796G>A

1 paper

NM_001388459.1

p.Q1314*

c.3940C>T