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.H215Q

c.645C>A

Surrounding Variants

1 paper

NM_001168235.2

p.H215Q

c.645C>G

1 paper

NM_001168235.2

p.H215Y

c.643C>T

1 paper

NM_001168235.2

p.K222T

c.665A>C

1 paper

NM_001168235.2

p.G201A

c.602G>C

1 paper

NM_001168235.2

p.D194D

c.582C>T

1 paper

NM_001168235.2

p.E243fs

c.727_728fs

1 paper

NM_001168235.2

p.E243delFs

c.728delT

1 paper

NM_001168235.2

p.R182Q

c.545G>A

1 paper

NM_001168235.2

p.T255I

c.764C>T

1 paper

NM_001168235.2

p.P175L

c.524C>T

1 paper

NM_001168235.2

p.T171M

c.512C>T

1 paper

NM_001168235.2

p.N261H

c.781A>C