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.V467F

c.1399G>T

Surrounding Variants

1 paper

NM_001368397.1

p.R469G

c.1405A>G

1 paper

NM_001368397.1

p.R469M

c.1406G>T

1 paper

NM_001368397.1

p.E471*

c.1411G>T

1 paper

NM_001368397.1

p.E475*

c.1423G>T

1 paper

NM_001368397.1

p.E477*

c.1429G>T

1 paper

NM_001368397.1

p.V441A

c.1322T>C

1 paper

NM_001368397.1

p.R434H

c.1301G>A

1 paper

NM_001368397.1

p.K433fs

c.1297_1298fs

1 paper

NM_001368397.1

p.K433delFs

c.1298delA

1 paper

NM_001368397.1

p.Q430E

c.1288C>G

1 paper

NM_001368397.1

p.Q430*

c.1288C>T

1 paper

NM_001368397.1

p.V429_Q430Splc

c.1287+8C>T