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.V549A

c.1646T>C

Surrounding Variants

1 paper

NM_001018071.4

p.Q551H

c.1653A>T

1 paper

NM_001018071.4

p.Q551H

c.1653A>C

1 paper

NM_001018071.4

p.M563I

c.1689G>T

1 paper

NM_001018071.4

p.M563I

c.1689G>C

1 paper

NM_001018071.4

p.M563I

c.1689G>A

1 paper

NM_001018071.4

p.I573M

c.1719A>G

2 papers

NM_001018071.4

p.R587W

c.1759C>T

1 paper

NM_001018071.4

p.K534E

c.1600A>G

1 paper

NM_001018071.4

p.S524C

c.1571C>G

1 paper

NM_001018071.4

p.R521W

c.1561C>T

1 paper

NM_001018071.4

p.H520Y

c.1558C>T

2 papers

NM_001018071.4

p.V495I

c.1483G>A