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.T1440K

c.4319C>A

Surrounding Variants

1 paper

NM_207361.6

p.T1446A

c.4336A>G

1 paper

NM_207361.6

p.S1430T

c.4288T>A

1 paper

NM_207361.6

p.R1466*

c.4396C>T

1 paper

NM_207361.6

p.Y1411C

c.4232A>G

1 paper

NM_207361.6

p.C1471Y

c.4412G>A

1 paper

NM_207361.6

p.P1475R

c.4424C>G

1 paper

NM_207361.6

p.T1480M

c.4439C>T

1 paper

NM_207361.6

p.V1398M

c.4192G>A

1 paper

NM_207361.6

p.K1395I

c.4184A>T

1 paper

NM_207361.6

p.Q1486K

c.4456C>A

1 paper

NM_207361.6

p.I1495M

c.4485C>G

1 paper

NM_207361.6

p.D1513N

c.4537G>A