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.E55D

c.165A>C

Surrounding Variants

1 paper

NM_005766.4

p.E55E

c.165A>G

1 paper

NM_005766.4

p.E55D

c.165A>T

1 paper

NM_005766.4

p.D48H

c.142G>C

1 paper

NM_005766.4

p.S41F

c.122C>T

1 paper

NM_005766.4

p.S41P

c.121T>C

1 paper

NM_005766.4

p.P32S

c.94C>T

1 paper

NM_005766.4

p.A16S

c.46G>T

1 paper

NM_005766.4

p.P10T

c.28C>A

1 paper

NM_005766.4

p.E5fs

c.13_14fs