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.D860N

c.2578G>A

Surrounding Variants

4 papers

NM_207361.6

p.V861F

c.2581G>T

1 paper

NM_207361.6

p.V857L

c.2569G>C

1 paper

NM_207361.6

p.V857L

c.2569G>T

1 paper

NM_207361.6

p.I864M

c.2592C>G

1 paper

NM_207361.6

p.E851delFs

c.2552_2553delAG

1 paper

NM_207361.6

p.E849K

c.2545G>A

1 paper

NM_207361.6

p.H845Y

c.2533C>T

1 paper

NM_207361.6

p.M877I

c.2631G>A

1 paper

NM_207361.6

p.M877I

c.2631G>C

1 paper

NM_207361.6

p.M877I

c.2631G>T

1 paper

NM_207361.6

p.T838A

c.2512A>G

1 paper

NM_207361.6

p.T835I

c.2504C>T