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.S1127L

c.3380C>T

Surrounding Variants

1 paper

NM_001168235.2

p.A1124T

c.3370G>A

1 paper

NM_001168235.2

p.E1084K

c.3250G>A

1 paper

NM_001168235.2

p.P1183fs

c.3547_3548fs

1 paper

NM_001168235.2

p.P1183delFs

c.3548delG

1 paper

NM_001168235.2

p.Y1019*

c.3057T>G

1 paper

NM_001168235.2

p.Y1019*

c.3057T>A

1 paper

NM_001168235.2

p.R1237Q

c.3710G>A

1 paper

NM_001168235.2

p.H1238R

c.3713A>G

1 paper

NM_001168235.2

p.G1239R

c.3715G>C

1 paper

NM_001168235.2

p.G1239R

c.3715G>A

1 paper

NM_001168235.2

p.G1248A

c.3743G>C

1 paper

NM_001168235.2

p.R1006Q

c.3017G>A