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.S509L

c.1526C>T

Surrounding Variants

1 paper

NM_174938.6

p.Y512Y

c.1536T>C

1 paper

NM_174938.6

p.R506C

c.1516C>T

1 paper

NM_174938.6

p.S529Y

c.1586C>A

4 papers

NM_174938.6

p.D485Y

c.1453G>T

1 paper

NM_174938.6

p.D468Y

c.1402G>T

2 papers

NM_174938.6

p.R563C

c.1687C>T

1 paper

NM_174938.6

p.V583M

c.1747G>A

1 paper

NM_174938.6

p.V400I

c.1198G>A