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

8 papers

NM_207361.6

p.R2167W

c.6499C>T

Surrounding Variants

1 paper

NM_207361.6

p.Y2165C

c.6494A>G

2 papers

NM_207361.6

p.G2169E

c.6506G>A

1 paper

NM_207361.6

p.G2169V

c.6506G>T

1 paper

NM_207361.6

p.Q2172H

c.6516G>C

1 paper

NM_207361.6

p.Q2172H

c.6516G>T

1 paper

NM_207361.6

p.V2173A

c.6518T>C

1 paper

NM_207361.6

p.S2160F

c.6479C>T

1 paper

NM_207361.6

p.R2180C

c.6538C>T

1 paper

NM_207361.6

p.T2153S

c.6458C>G

1 paper

NM_207361.6

p.T2153S

c.6457A>T

1 paper

NM_207361.6

p.N2182fs

c.6544_6545fs

1 paper

NM_207361.6

p.N2182_T2183delFs

c.6546_6549del4