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.N1503K

c.4509T>G

Surrounding Variants

1 paper

NM_001168235.2

p.N1503K

c.4509T>A

1 paper

NM_001168235.2

p.M1508V

c.4522A>G

1 paper

NM_001168235.2

p.M1508K

c.4523T>A

1 paper

NM_001168235.2

p.E1512K

c.4534G>A

1 paper

NM_001168235.2

p.E1518K

c.4552G>A

1 paper

NM_001168235.2

p.F1526V

c.4576T>G

1 paper

NM_001168235.2

p.R1527K

c.4580G>A

2 papers

NM_001168235.2

p.Y1478N

c.4432T>A

1 paper

NM_001168235.2

p.T1531S

c.4591A>T

1 paper

NM_001168235.2

p.T1531S

c.4592C>G

1 paper

NM_001168235.2

p.V1533V

c.4599G>A

1 paper

NM_001168235.2

p.P1538L

c.4613C>T