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

1 paper

NM_005766.4

p.I748M

c.2244T>G

Surrounding Variants

1 paper

NM_005766.4

p.M734V

c.2200A>G

1 paper

NM_005766.4

p.A716D

c.2147C>A

1 paper

NM_001286839.2

p.I765M

c.2295T>G

1 paper

NM_005766.4

p.G771R

c.2311G>A

1 paper

NM_005766.4

p.G773A

c.2318G>C

1 paper

NM_005766.4

p.L774F

c.2320C>T

1 paper

NM_005766.4

p.T794M

c.2381C>T

1 paper

NM_005766.4

p.G803R

c.2407G>A

1 paper

NM_005766.4

p.G803R

c.2407G>C

1 paper

NM_005766.4

p.P806P

c.2418G>A

1 paper

NM_005766.4

p.V821delFs

c.2461delG

1 paper

NM_005766.4

p.C824*

c.2472C>A