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

2 papers

NM_001368397.1

p.V881M

c.2641G>A

Surrounding Variants

1 paper

NM_001368397.1

p.T872T

c.2616G>A

1 paper

NM_001368397.1

p.V870V

c.2610C>A

1 paper

NM_001368397.1

p.V870I

c.2608G>A

3 papers

NM_001368397.1

p.N867D

c.2599A>G

1 paper

NM_001368397.1

p.I850T

c.2549T>C

1 paper

NM_001368397.1

p.A809T

c.2425G>A

1 paper

NM_001368397.1

p.E795V

c.2384A>T

1 paper

NM_001368397.1

p.D782_L786delFs

c.2344_2356del13

1 paper

NM_001368397.1

p.I895delFs

c.2685delC

1 paper

NM_001368397.1

p.R897R

c.2691G>T

1 paper

NM_001368397.1

p.E732K

c.2194G>A

1 paper

NM_001368397.1

p.A728V

c.2183C>T