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.P1180P

c.3540C>T

Surrounding Variants

1 paper

NM_207361.6

p.P1185S

c.3553C>T

1 paper

NM_207361.6

p.E1175K

c.3523G>A

1 paper

NM_207361.6

p.D1169H

c.3505G>C

1 paper

NM_207361.6

p.R1166C

c.3496C>T

1 paper

NM_207361.6

p.R1166fs

c.3496_3497fs

1 paper

NM_207361.6

p.F1165delFs

c.3495delT

1 paper

NM_207361.6

p.D1209H

c.3625G>C

2 papers

NM_207361.6

p.T1210insFs

c.3628dupA

2 papers

NM_207361.6

p.T1210fs

c.3628_3629fs

1 paper

NM_207361.6

p.T1210I

c.3629C>T

1 paper

NM_207361.6

p.P1221S

c.3661C>T

1 paper

NM_207361.6

p.G1130E

c.3389G>A