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.E357Splc

c.1070+98G>T

Surrounding Variants

1 paper

NM_001368397.1

p.A334T

c.1000G>A

1 paper

NM_001368397.1

p.R320R

c.960A>T

1 paper

NM_001368397.1

p.W360L

c.1079G>T

1 paper

NM_001368397.1

p.G361R

c.1081G>A

1 paper

NM_001368397.1

p.G361R

c.1081G>C

1 paper

NM_001368397.1

p.L371L

c.1113G>A

1 paper

NM_001368397.1

p.N378I

c.1133A>T

1 paper

NM_001368397.1

p.S384*

c.1151C>A

1 paper

NM_001368397.1

p.S384*

c.1151C>G

1 paper

NM_001368397.1

p.K399M

c.1196A>T

1 paper

NM_001368397.1

p.K399_L400Splc

c.1198-6C>A

1 paper

NM_001368397.1

p.V429A

c.1286T>C