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.A728T

c.2182G>A

Surrounding Variants

1 paper

NM_001368397.1

p.A728V

c.2183C>T

1 paper

NM_001368397.1

p.E732K

c.2194G>A

1 paper

NM_001368395.3

p.D737H

c.2209G>C

NM_001368397.1

p.D700H

c.2098G>C

1 paper

NM_001368397.1

p.G691V

c.2072G>T

1 paper

NM_001368397.1

p.L688I

c.2062C>A

1 paper

NM_001368397.1

p.L675L

c.2023C>T

1 paper

NM_001368397.1

p.D782_L786delFs

c.2344_2356del13

2 papers

NM_001368397.1

p.T673M

c.2018C>T

1 paper

NM_001368397.1

p.E795V

c.2384A>T

1 paper

NM_001368397.1

p.A809T

c.2425G>A

1 paper

NM_001368397.1

p.Q643Q

c.1929G>A

1 paper

NM_001368397.1

p.A642T

c.1924G>A