Varaico: Literature-Extracted Genetic Variants

FRMPD4

112 papers

RefSeq Summary

This gene encodes a multi-domain (WW, PDZ, FERM) containing protein. Through its interaction with other proteins (such as PSD-95), it functions as a positive regulator of dendritic spine morphogenesis...

Pfam Domains

PDZaa 78–152UCSCPDZ domain

FERM_Maa 294–424UCSCFERM central domain

FERM_C_FAK1aa 427–522UCSCFAK1/PYK2, FERM domain C-lobe

Gene Aliases

HGNC Name

FERM and PDZ domain containing 4

HGNC Previous Symbols

PDZK10; PDZD10

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001368397.1

p.K982E

c.2944A>G

Surrounding Variants

1 paper

NM_001368397.1

p.P975L

c.2924C>T

1 paper

NM_001368397.1

p.A960T

c.2878G>A

1 paper

NM_001368397.1

p.S1006*

c.3017C>A

1 paper

NM_001368397.1

p.A955fs

c.2863_2864fs

1 paper

NM_001368397.1

p.P954delFs

c.2862delG

1 paper

NM_001368397.1

p.T951T

c.2853C>T

1 paper

NM_001368397.1

p.A1020E

c.3059C>A

2 papers

NM_001368397.1

p.Y1021H

c.3061T>C

1 paper

NM_001368397.1

p.H940H

c.2820C>T

2 papers

NM_001368397.1

p.T939I

c.2816C>T

1 paper

NM_001368397.1

p.A938S

c.2812G>T

1 paper

NM_001368397.1

p.K1026N

c.3078A>C