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.K1026N

c.3078A>C

Surrounding Variants

1 paper

NM_001368397.1

p.K1026N

c.3078A>T

1 paper

NM_001368397.1

p.A1032D

c.3095C>A

2 papers

NM_001368397.1

p.Y1021H

c.3061T>C

1 paper

NM_001368397.1

p.A1032A

c.3096C>T

1 paper

NM_001368397.1

p.A1020E

c.3059C>A

1 paper

NM_001368397.1

p.G1046E

c.3137G>A

1 paper

NM_001368397.1

p.S1006*

c.3017C>A

1 paper

NM_001368397.1

p.T1054K

c.3161C>A

1 paper

NM_001368397.1

p.T1054M

c.3161C>T

1 paper

NM_001368397.1

p.K982E

c.2944A>G

1 paper

NM_001368397.1

p.D1072E

c.3216C>A

1 paper

NM_001368397.1

p.D1072E

c.3216C>G