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.N1323fs

c.3967_3968fs

Surrounding Variants

2 papers

NM_207361.6

p.N1323delFs

c.3969delC

1 paper

NM_207361.6

p.K1320T

c.3959A>C

1 paper

NM_207361.6

p.T1319A

c.3955A>G

1 paper

NM_207361.6

p.L1327I

c.3979T>A

1 paper

NM_207361.6

p.L1332L

c.3994T>C

1 paper

NM_207361.6

p.T1303M

c.3908C>T

8 papers

NM_207361.6

p.R1344H

c.4031G>A

2 papers

NM_207361.6

p.Y1345C

c.4034A>G

1 paper

NM_207361.6

p.R1355*

c.4063C>T

1 paper

NM_207361.6

p.R1355Q

c.4064G>A

1 paper

NM_207361.6

p.A1360D

c.4079C>A

1 paper

NM_207361.6

p.F1361S

c.4082T>C