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.R698Q

c.2093G>A

Surrounding Variants

1 paper

NM_005766.4

p.K701R

c.2102A>G

1 paper

NM_005766.4

p.P705L

c.2114C>T

1 paper

NM_005766.4

p.M690L

c.2068A>C

1 paper

NM_005766.4

p.M690L

c.2068A>T

1 paper

NM_005766.4

p.R688G

c.2062C>G

1 paper

NM_005766.4

p.R714L

c.2141G>T

1 paper

NM_005766.4

p.E652K

c.1954G>A

2 papers

NM_005766.4

p.E646K

c.1936G>A

1 paper

NM_005766.4

p.A716D

c.2147C>A

1 paper

NM_005766.4

p.M734V

c.2200A>G

1 paper

NM_005766.4

p.I748M

c.2244T>G

1 paper

NM_001286839.2

p.I765M

c.2295T>G