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.E243V

c.728A>T

Surrounding Variants

1 paper

NM_001368397.1

p.E250Q

c.748G>C

1 paper

NM_001368397.1

p.Q251K

c.751C>A

1 paper

NM_001368397.1

p.L262F

c.786G>C

1 paper

NM_001368397.1

p.L262F

c.786G>T

1 paper

NM_001368397.1

p.F218V

c.652T>G

1 paper

NM_001368397.1

p.H279N

c.835C>A

1 paper

NM_001368397.1

p.K280N

c.840G>C

1 paper

NM_001368397.1

p.K280N

c.840G>T

1 paper

NM_001368397.1

p.K195E

c.583A>G

4 papers

NM_001368397.1

p.R286*

c.856C>T

1 paper

NM_001368397.1

p.V290I

c.868G>A

2 papers

NM_001368397.1

p.I295T

c.884T>C