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.R1765L

c.5294G>T

Surrounding Variants

4 papers

NM_207361.6

p.R1765C

c.5293C>T

1 paper

NM_207361.6

p.T1760M

c.5279C>T

1 paper

NM_207361.6

p.W1770*

c.5309G>A

1 paper

NM_207361.6

p.W1770*

c.5310G>A

1 paper

NM_207361.6

p.R1793H

c.5378G>A

1 paper

NM_207361.6

p.A1812T

c.5434G>A

1 paper

NM_207361.6

p.E1813K

c.5437G>A

1 paper

NM_207361.6

p.D1815N

c.5443G>A

1 paper

NM_207361.6

p.Q1832K

c.5494C>A

1 paper

NM_207361.6

p.Q1832*

c.5494C>T

2 papers

NM_207361.6

p.R1840W

c.5518C>T

1 paper

NM_207361.6

p.Q1849H

c.5547G>C