Varaico: Literature-Extracted Genetic Variants

FREM3

128 papers

RefSeq Summary

This gene encodes an integral membrane protein containing numerous CSPG (chondroitin sulfate proteoglycan element) repeats and Calx-beta domains. The protein belongs to the family of FRAS1/FREM extrac...

Pfam Domains

Frem_Naa 62–269UCSCFrem protein N-terminal domain

Cadherin_3aa 307–425UCSCCadherin-like

Cadherin_3aa 433–536UCSCCadherin-like

Cadherin_3aa 544–598UCSCCadherin-like

Cadherin_3aa 703–821UCSCCadherin-like

Cadherin_3aa 829–934UCSCCadherin-like

Gene Aliases

HGNC Name

FRAS1 related extracellular matrix 3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001168235.2

p.I731T

c.2192T>C

Surrounding Variants

2 papers

NM_001168235.2

p.T746I

c.2237C>T

1 paper

NM_001168235.2

p.K694N

c.2082G>T

1 paper

NM_001168235.2

p.K694N

c.2082G>C

1 paper

NM_001168235.2

p.L771V

c.2311C>G

1 paper

NM_001168235.2

p.Q666*

c.1996C>T

1 paper

NM_001168235.2

p.R658C

c.1972C>T

1 paper

NM_001168235.2

p.D649N

c.1945G>A

1 paper

NM_001168235.2

p.V814M

c.2440G>A

1 paper

NM_001168235.2

p.Q647E

c.1939C>G

1 paper

NM_001168235.2

p.Q647K

c.1939C>A

1 paper

NM_001168235.2

p.F818L

c.2454C>A

1 paper

NM_001168235.2

p.V641fs

c.1921_1922fs