Varaico: Literature-Extracted Genetic Variants

FRMD4B

74 papers

RefSeq Summary

This gene encodes a GRP1-binding protein which contains a FERM protein interaction domain as well as two coiled coil domains. This protein may play a role as a scaffolding protein. [provided by RefSeq...

Pfam Domains

FERM_Naa 63–125UCSCFERM N-terminal domain

FERM_Maa 143–260UCSCFERM central domain

FERM_Caa 264–365UCSCFERM C-terminal PH-like domain

CUPIDaa 395–529UCSCCytohesin Ubiquitin Protein Inducing Domain

Gene Aliases

HGNC Name

FERM domain containing 4B

HGNC Alias Symbols

KIAA1013; GRSP1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015123.3

p.L80L

c.238C>T

Surrounding Variants

1 paper

NM_015123.3

p.H91Y

c.271C>T

1 paper

NM_015123.3

p.I105T

c.314T>C

1 paper

NM_015123.3

p.T108Splc

c.323+3A>G

1 paper

NM_015123.3

p.L73V

c.217C>G

1 paper

NM_015123.3

p.L71V

c.211C>G

1 paper

NM_015123.3

p.D67N

c.199G>A

1 paper

NM_015123.3

p.V63A

c.188T>C

1 paper

NM_015123.3

p.Q110E

c.328C>G

1 paper

NM_015123.3

p.W113S

c.338G>C

3 papers

NM_015123.3

p.K127R

c.380A>G