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

1–12 of 157 variants

5 papers

NM_001368397.1

p.C553R

c.1657T>C

4 papers

NM_001368397.1

p.R286*

c.856C>T

4 papers

NM_001368397.1

p.C618fs

c.1852_1853fs

3 papers

NM_001368397.1

p.L546F

c.1636C>T

3 papers

NM_001368397.1

p.N867D

c.2599A>G

2 papers

NM_001368397.1

p.I295T

c.884T>C

2 papers

NM_001368397.1

p.N545K

c.1635C>A

2 papers

NM_001368397.1

p.N545K

c.1635C>G

2 papers

NM_001368397.1

p.E591A

c.1772A>C

2 papers

NM_001368397.1

p.T673M

c.2018C>T

2 papers

NM_001368397.1

p.V881M

c.2641G>A

2 papers

NM_001368397.1

p.R934C

c.2800C>T