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

1 paper

NM_207361.6

p.K2973R

c.8918A>G

Surrounding Variants

6 papers

NM_207361.6

p.V2968I

c.8902G>A

1 paper

NM_207361.6

p.T2963A

c.8887A>G

1 paper

NM_207361.6

p.P2999T

c.8995C>A

1 paper

NM_207361.6

p.I2952T

c.8855T>C

1 paper

NM_207361.6

p.R2949G

c.8845A>G

1 paper

NM_207361.6

p.Y2948H

c.8842T>C

1 paper

NM_207361.6

p.D2908G

c.8723A>G

1 paper

NM_207361.6

p.R2897C

c.8689C>T

1 paper

NM_207361.6

p.Y2895*

c.8685T>A

1 paper

NM_207361.6

p.Y2895*

c.8685T>G

1 paper

NM_207361.6

p.Y2895delFs

c.8685delT

1 paper

NM_207361.6

p.R3007*

c.9019C>T