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.L495M

c.1483C>A

Surrounding Variants

1 paper

NM_207361.6

p.E511K

c.1531G>A

1 paper

NM_207361.6

p.A514V

c.1541C>T

1 paper

NM_207361.6

p.A514A

c.1542C>T

1 paper

NM_207361.6

p.D475Y

c.1423G>T

1 paper

NM_207361.6

p.V517M

c.1549G>A

1 paper

NM_207361.6

p.S471S

c.1413C>T

1 paper

NM_207361.6

p.L468L

c.1402T>C

1 paper

NM_207361.6

p.D523N

c.1567G>A

1 paper

NM_207361.6

p.Q466K

c.1396C>A

1 paper

NM_207361.6

p.P465L

c.1394C>T

1 paper

NM_207361.6

p.S527L

c.1580C>T

1 paper

NM_207361.6

p.A461E

c.1382C>A