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

2 papers

NM_207361.6

p.I72T

c.215T>C

Surrounding Variants

1 paper

NM_207361.6

p.V73V

c.219G>A

1 paper

NM_207361.6

p.P67S

c.199C>T

1 paper

NM_207361.6

p.R80W

c.238C>T

1 paper

NM_207361.6

p.R85C

c.253C>T

1 paper

NM_207361.6

p.R85H

c.254G>A

1 paper

NM_207361.6

p.L89R

c.266T>G

1 paper

NM_207361.6

p.A54V

c.161C>T

1 paper

NM_207361.6

p.P91S

c.271C>T

1 paper

NM_207361.6

p.Q47E

c.139C>G

1 paper

NM_207361.6

p.Q100E

c.298C>G

1 paper

NM_207361.6

p.A106T

c.316G>A

1 paper

NM_207361.6

p.L38del1

c.112_113delCTG