Varaico: Literature-Extracted Genetic Variants

FRMD3

47 papers

RefSeq Summary

The protein encoded by this gene is a single pass membrane protein primarily found in ovaries. A similar protein in erythrocytes helps determine the shape of red blood cells, but the function of the e...

Pfam Domains

FERM_Naa 36–99UCSCFERM N-terminal domain

FERM_Maa 114–225UCSCFERM central domain

Gene Aliases

HGNC Name

FERM domain containing 3

HGNC Alias Symbols

EPB41L4O; MGC20553

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_174938.6

p.P169P

c.507T>C

Surrounding Variants

1 paper

NM_174938.6

p.D164Y

c.490G>T

1 paper

NM_174938.6

p.E192K

c.574G>A

1 paper

NM_174938.6

p.I155T

c.464T>C

1 paper

NM_174938.6

p.C154R

c.460T>C

1 paper

NM_174938.6

p.R140H

c.419G>A