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.S61R

c.181A>C

Surrounding Variants

1 paper

NM_001168235.2

p.S61R

c.183C>G

1 paper

NM_001168235.2

p.S61R

c.183C>A

1 paper

NM_001168235.2

p.V62M

c.184G>A

1 paper

NM_001168235.2

p.P47fs

c.139_140fs

1 paper

NM_001168235.2

p.D80H

c.238G>C

1 paper

NM_001168235.2

p.P81R

c.242C>G

4 papers

NM_001168235.2

p.L82F

c.244C>T

1 paper

NM_001168235.2

p.T38I

c.113C>T

1 paper

NM_001168235.2

p.A102T

c.304G>A

3 papers

NM_001168235.2

p.V17A

c.50T>C

1 paper

NM_001168235.2

p.G108fs

c.322_323fs

1 paper

NM_001168235.2

p.P121S

c.361C>T