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

1–12 of 109 variants

2 papers

NM_005766.4

p.G489R

c.1465G>A

2 papers

NM_005766.4

p.G489R

c.1465G>C

2 papers

NM_005766.4

p.R612C

c.1834C>T

2 papers

NM_005766.4

p.E646K

c.1936G>A

2 papers

NM_005766.4

p.S896L

c.2687C>T

2 papers

NM_005766.4

p.H913_V914insFs

c.2739_2740insT

1 paper

NM_005766.4

p.E5fs

c.13_14fs

1 paper

NM_005766.4

p.P10T

c.28C>A

1 paper

NM_005766.4

p.A16S

c.46G>T

1 paper

NM_005766.4

p.P32S

c.94C>T

1 paper

NM_005766.4

p.S41P

c.121T>C

1 paper

NM_005766.4

p.S41F

c.122C>T