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.H3089R

c.9266A>G

Surrounding Variants

1 paper

NM_207361.6

p.E3068K

c.9202G>A

1 paper

NM_207361.6

p.A3062S

c.9184G>T

1 paper

NM_207361.6

p.S3060P

c.9178T>C

1 paper

NM_207361.6

p.V3120I

c.9358G>A

1 paper

NM_207361.6

p.V3038A

c.9113T>C

1 paper

NM_207361.6

p.S3153N

c.9458G>A

1 paper

NM_207361.6

p.P3158insFs

c.9472dupC

1 paper

NM_207361.6

p.P3159Q

c.9476C>A

1 paper

NM_207361.6

p.S3019L

c.9056C>T

1 paper

NM_207361.6

p.Q3160fs

c.9478_9479fs

1 paper

NM_207361.6

p.V3017G

c.9050T>G

3 papers

NM_207361.6

p.T3013M

c.9038C>T