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.R831W

c.2491C>T

Surrounding Variants

1 paper

NM_005766.4

p.G829S

c.2485G>A

1 paper

NM_005766.4

p.C824*

c.2472C>A

1 paper

NM_005766.4

p.V821delFs

c.2461delG

1 paper

NM_005766.4

p.R841W

c.2521C>T

1 paper

NM_005766.4

p.E843K

c.2527G>A

1 paper

NM_005766.4

p.S872fs

c.2614_2615fs

1 paper

NM_005766.4

p.S872insFs

c.2616dupC

1 paper

NM_005766.4

p.S894G

c.2680A>G

2 papers

NM_005766.4

p.S896L

c.2687C>T

1 paper

NM_005766.4

p.R897H

c.2690G>A

1 paper

NM_005766.4

p.R902C

c.2704C>T

2 papers

NM_005766.4

p.H913_V914insFs

c.2739_2740insT