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.R1189H

c.3566G>A

Surrounding Variants

1 paper

NM_001368397.1

p.R1189C

c.3565C>T

1 paper

NM_001368397.1

p.S1200P

c.3598T>C

1 paper

NM_001368397.1

p.E1205K

c.3613G>A

2 papers

NM_001368397.1

p.F1208S

c.3623T>C

1 paper

NM_001368397.1

p.Q1214R

c.3641A>G

1 paper

NM_001368397.1

p.R1149H

c.3446G>A

1 paper

NM_001368397.1

p.G1147E

c.3440G>A

1 paper

NM_001368397.1

p.P1238P

c.3714G>A

1 paper

NM_001368397.1

p.C1240F

c.3719G>T

1 paper

NM_001368397.1

p.D1250D

c.3750C>T

1 paper

NM_001368397.1

p.F1115L

c.3345T>A

1 paper

NM_001368397.1

p.F1115L

c.3345T>G