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

1–12 of 100 variants

5 papers

NM_001018071.4

p.I968V

c.2902A>G

4 papers

NM_001018071.4

p.G351R

c.1051G>C

4 papers

NM_001018071.4

p.G351R

c.1051G>A

3 papers

NM_001018071.4

p.R721H

c.2162G>A

3 papers

NM_001018071.4

p.G912E

c.2735G>A

3 papers

NM_001018071.4

p.I943V

c.2827A>G

2 papers

NM_001018071.4

p.L279I

c.835C>A

2 papers

NM_001018071.4

p.V495I

c.1483G>A

2 papers

NM_001018071.4

p.R587W

c.1759C>T

2 papers

NM_001018071.4

p.S874G

c.2620A>G

2 papers

NM_001018071.4

p.S887N

c.2660G>A

2 papers

NM_001018071.4

p.S934Y

c.2801C>A