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

6 papers

NM_207361.6

p.T2326I

c.6977C>T

Surrounding Variants

1 paper

NM_207361.6

p.T2326S

c.6977C>G

1 paper

NM_207361.6

p.T2326S

c.6976A>T

1 paper

NM_207361.6

p.E2324K

c.6970G>A

1 paper

NM_207361.6

p.G2329W

c.6985G>T

1 paper

NM_207361.6

p.R2331insFs

c.6992_6993insGG

1 paper

NM_207361.6

p.R2331K

c.6992G>A

1 paper

NM_207361.6

p.T2317S

c.6950C>G

1 paper

NM_207361.6

p.T2317S

c.6949A>T

1 paper

NM_207361.6

p.T2338I

c.7013C>T

1 paper

NM_207361.6

p.H2340Y

c.7018C>T

1 paper

NM_207361.6

p.Q2352_L2353Splc

c.7056+50G>A

1 paper

NM_207361.6

p.A2367E

c.7100C>A