Varaico: Literature-Extracted Genetic Variants

FREM3

128 papers

RefSeq Summary

This gene encodes an integral membrane protein containing numerous CSPG (chondroitin sulfate proteoglycan element) repeats and Calx-beta domains. The protein belongs to the family of FRAS1/FREM extrac...

Pfam Domains

Frem_Naa 62–269UCSCFrem protein N-terminal domain

Cadherin_3aa 307–425UCSCCadherin-like

Cadherin_3aa 433–536UCSCCadherin-like

Cadherin_3aa 544–598UCSCCadherin-like

Cadherin_3aa 703–821UCSCCadherin-like

Cadherin_3aa 829–934UCSCCadherin-like

Gene Aliases

HGNC Name

FRAS1 related extracellular matrix 3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001168235.2

p.Q2055H

c.6165G>C

Surrounding Variants

1 paper

NM_001168235.2

p.Q2055H

c.6165G>T

1 paper

NM_001168235.2

p.A2060Splc

c.6178+7G>A

1 paper

NM_001168235.2

p.V2022I

c.6064G>A

1 paper

NM_001168235.2

p.S2068I

c.6203G>T

1 paper

NM_001168235.2

p.D2072H

c.6214G>C

1 paper

NM_001168235.2

p.D2089N

c.6265G>A

2 papers

NM_001168235.2

p.F2101S

c.6302T>C

2 papers

NM_001168235.2

p.I2127V

c.6379A>G

1 paper

NM_001168235.2

p.S2137F

c.6410C>T