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

1–12 of 181 variants

4 papers

NM_001168235.2

p.L82F

c.244C>T

3 papers

NM_001168235.2

p.V17A

c.50T>C

3 papers

NM_001168235.2

p.R502*

c.1504C>T

3 papers

NM_001168235.2

p.I839L

c.2515A>C

2 papers

NM_001168235.2

p.A159V

c.476C>T

2 papers

NM_001168235.2

p.V546F

c.1636G>T

2 papers

NM_001168235.2

p.T746I

c.2237C>T

2 papers

NM_001168235.2

p.E888*

c.2662G>T

2 papers

NM_001168235.2

p.Y1478N

c.4432T>A

2 papers

NM_001168235.2

p.R1910*

c.5728C>T

2 papers

NM_001168235.2

p.R1910Q

c.5729G>A

2 papers

NM_001168235.2

p.F2101S

c.6302T>C