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

1 paper

NM_001018071.4

p.P723L

c.2168C>T

Surrounding Variants

1 paper

NM_001018071.4

p.S722Splc

c.2166-5G>T

1 paper

NM_001018071.4

p.R727W

c.2179C>T

1 paper

NM_001018071.4

p.A733_C734delFs

c.2199_2200delAG

1 paper

NM_001018071.4

p.G756V

c.2267G>T

1 paper

NM_001018071.4

p.R762K

c.2285G>A

1 paper

NM_001018071.4

p.I766I

c.2298A>T

1 paper

NM_001018071.4

p.P769L

c.2306C>T

1 paper

NM_001018071.4

p.R775G

c.2323C>G

1 paper

NM_001018071.4

p.P782T

c.2344C>A

1 paper

NM_001018071.4

p.R784C

c.2350C>T

1 paper

NM_001018071.4

p.Q798K

c.2392C>A

1 paper

NM_001018071.4

p.A799D

c.2396C>A