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

1–12 of 463 variants

9 papers

NM_207361.6

p.E1972K

c.5914G>A

8 papers

NM_207361.6

p.R1344H

c.4031G>A

8 papers

NM_207361.6

p.R2167W

c.6499C>T

6 papers

NM_207361.6

p.R535C

c.1603C>T

6 papers

NM_207361.6

p.T2326I

c.6977C>T

6 papers

NM_207361.6

p.V2968I

c.8902G>A

4 papers

NM_207361.6

p.V861F

c.2581G>T

4 papers

NM_207361.6

p.F1070S

c.3209T>C

4 papers

NM_207361.6

p.R1765C

c.5293C>T

4 papers

NM_207361.6

p.G2507Splc

c.7519+1G>A

3 papers

NM_207361.6

p.E250_T251insFs

c.750_751dupGA

3 papers

NM_207361.6

p.T251fs

c.751_752fs