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

1 paper

NM_174938.6

p.S42W

c.125C>G

Surrounding Variants

2 papers

NM_174938.6

p.P9R

c.26C>G

1 paper

NM_174938.6

p.S4delFs

c.10delA

1 paper

NM_174938.6

p.F2Y

c.5T>A

1 paper

NM_174938.6

p.M1fs

c.1_2fs