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.S874G

c.2620A>G

Surrounding Variants

2 papers

NM_001018071.4

p.S887N

c.2660G>A

3 papers

NM_001018071.4

p.G912E

c.2735G>A

2 papers

NM_001018071.4

p.S934Y

c.2801C>A

3 papers

NM_001018071.4

p.I943V

c.2827A>G

1 paper

NM_001018071.4

p.E956K

c.2866G>A

1 paper

NM_001018071.4

p.L960I

c.2878C>A

1 paper

NM_001018071.4

p.S963S

c.2889T>C

1 paper

NM_001018071.4

p.S858T

c.2572T>A

1 paper

NM_001018071.4

p.V843F

c.2527G>T

1 paper

NM_001018071.4

p.V843I

c.2527G>A

1 paper

NM_001018071.4

p.H831Y

c.2491C>T

1 paper

NM_001018071.4

p.A817E

c.2450C>A