Varaico: Literature-Extracted Genetic Variants

FRMPD2

83 papers

RefSeq Summary

This gene encodes a peripheral membrane protein and is located in a region of chromosome 10q that contains a segmental duplication. This copy of the gene is full-length and is in the telomeric duplica...

Pfam Domains

FERM_Naa 346–408UCSCFERM N-terminal domain

FERM_Maa 433–550UCSCFERM central domain

FERM_Caa 557–646UCSCFERM C-terminal PH-like domain

PDZaa 775–858UCSCPDZ domain

PDZaa 951–1032UCSCPDZ domain

PDZaa 1079–1164UCSCPDZ domain

Gene Aliases

HGNC Name

FERM and PDZ domain containing 2

HGNC Previous Symbols

PDZD5C; PDZK5C

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001018071.4

p.L279I

c.835C>A

Surrounding Variants

1 paper

NM_001018071.4

p.R277Q

c.830G>A

1 paper

NM_001018071.4

p.K307_F308Splc

c.922-1G>A

1 paper

NM_001018071.4

p.E319G

c.956A>G

1 paper

NM_001018071.4

p.L252M

c.754T>A

1 paper

NM_001018071.4

p.T251I

c.752C>T

1 paper

NM_001018071.4

p.P327S

c.979C>T

1 paper

NM_001018071.4

p.G328R

c.982G>C

1 paper

NM_001018071.4

p.G328R

c.982G>A

1 paper

NM_001018071.4

p.S220G

c.658A>G

1 paper

NM_001018071.4

p.R205K

c.614G>A

1 paper

NM_001018071.4

p.V183I

c.547G>A

1 paper

NM_001018071.4

p.P171S

c.511C>T