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.R389W

c.1165C>T

Surrounding Variants

1 paper

NM_207361.6

p.E400K

c.1198G>A

1 paper

NM_207361.6

p.L378insFs

c.1132dupC

1 paper

NM_207361.6

p.E413Q

c.1237G>C

1 paper

NM_207361.6

p.V415E

c.1244T>A

1 paper

NM_207361.6

p.P362A

c.1084C>G

1 paper

NM_207361.6

p.L417P

c.1250T>C

1 paper

NM_207361.6

p.N358S

c.1073A>G

3 papers

NM_207361.6

p.V429A

c.1286T>C

1 paper

NM_207361.6

p.E346Q

c.1036G>C

1 paper

NM_207361.6

p.K432N

c.1296G>C

1 paper

NM_207361.6

p.K432N

c.1296G>T

1 paper

NM_207361.6

p.N435K

c.1305C>A