Varaico: Literature-Extracted Genetic Variants

FARP1

96 papers

RefSeq Summary

This gene encodes a protein containing a FERM (4.2, exrin, radixin, moesin) domain, a Dbl homology domain, and two pleckstrin homology domains. These domains are found in guanine nucleotide exchange f...

Pfam Domains

FERM_Naa 44–107UCSCFERM N-terminal domain

FERM_Maa 122–230UCSCFERM central domain

FERM_Caa 234–324UCSCFERM C-terminal PH-like domain

FAaa 329–372UCSCFERM adjacent (FA)

RhoGEFaa 544–728UCSCRhoGEF domain

Gene Aliases

HGNC Name

FERM, ARH/RhoGEF and pleckstrin domain protein 1

HGNC Alias Symbols

CDEP; PLEKHC2; MGC87400; PPP1R75; GLCC1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_005766.4

p.G489R

c.1465G>A

Surrounding Variants

2 papers

NM_005766.4

p.G489R

c.1465G>C

1 paper

NM_005766.4

p.G490V

c.1469G>T

1 paper

NM_005766.4

p.V496V

c.1488G>A

1 paper

NM_005766.4

p.L498L

c.1494G>A

1 paper

NM_005766.4

p.L512F

c.1536G>C

1 paper

NM_005766.4

p.L512F

c.1536G>T

1 paper

NM_005766.4

p.R524Q

c.1571G>A

1 paper

NM_005766.4

p.T525M

c.1574C>T

1 paper

NM_005766.4

p.A541A

c.1623G>A

1 paper

NM_005766.4

p.F585S

c.1754T>C

1 paper

NM_005766.4

p.P590S

c.1768C>T