Varaico: Literature-Extracted Genetic Variants

FREM2

320 papers

RefSeq Summary

This gene encodes an integral membrane protein containing numerous CSPG (chondroitin sulfate proteoglycan element) repeats and Calx-beta domains. The encoded protein localizes to the basement membrane...

Pfam Domains

Frem_Naa 72–284UCSCFrem protein N-terminal domain

Cadherin_3aa 320–430UCSCCadherin-like

Cadherin_3aa 439–553UCSCCadherin-like

Cadherin_3aa 561–693UCSCCadherin-like

Cadherin_3aa 707–821UCSCCadherin-like

Cadherin_3aa 829–933UCSCCadherin-like

Gene Aliases

HGNC Name

FRAS1 related extracellular matrix 2

HGNC Alias Symbol

DKFZp686J0811

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_207361.6

p.Y2471Y

c.7413C>T

Surrounding Variants

1 paper

NM_207361.6

p.I2470L

c.7408A>C

1 paper

NM_207361.6

p.I2470V

c.7408A>G

1 paper

NM_207361.6

p.I2470L

c.7408A>T

1 paper

NM_207361.6

p.T2466T

c.7398A>G

2 papers

NM_207361.6

p.R2477W

c.7429C>T

1 paper

NM_207361.6

p.T2457I

c.7370C>T

1 paper

NM_207361.6

p.G2489R

c.7465G>A

1 paper

NM_207361.6

p.G2489R

c.7465G>C

1 paper

NM_207361.6

p.V2446M

c.7336G>A

1 paper

NM_207361.6

p.G2445S

c.7333G>A

1 paper

NM_207361.6

p.D2444D

c.7332C>T

2 papers

NM_207361.6

p.A2441V

c.7322C>T