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

3 papers

NM_001168235.2

p.R502*

c.1504C>T

Surrounding Variants

1 paper

NM_001168235.2

p.F493S

c.1478T>C

1 paper

NM_001168235.2

p.G489A

c.1466G>C

1 paper

NM_001168235.2

p.N516K

c.1548T>G

1 paper

NM_001168235.2

p.N516K

c.1548T>A

1 paper

NM_001168235.2

p.G524R

c.1570G>C

1 paper

NM_001168235.2

p.G524R

c.1570G>A

1 paper

NM_001168235.2

p.P538S

c.1612C>T

1 paper

NM_001168235.2

p.E542K

c.1624G>A

2 papers

NM_001168235.2

p.V546F

c.1636G>T

1 paper

NM_001168235.2

p.P450L

c.1349C>T

1 paper

NM_001168235.2

p.T430S

c.1289C>G

1 paper

NM_001168235.2

p.T430S

c.1288A>T