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

1–12 of 91 variants

8 papers

NM_015123.3

p.S947L

c.2840C>T

5 papers

NM_015123.3

p.A541G

c.1622C>G

4 papers

NM_015123.3

p.T396A

c.1186A>G

3 papers

NM_015123.3

p.K127R

c.380A>G

2 papers

NM_015123.3

p.V418I

c.1252G>A

2 papers

NM_015123.3

p.N770T

c.2309A>C

2 papers

NM_015123.3

p.Q832E

c.2494C>G

1 paper

NM_015123.3

p.L13L

c.39G>C

1 paper

NM_015123.3

p.Y32*

c.96C>G

1 paper

NM_015123.3

p.Y32*

c.96C>A

1 paper

NM_015123.3

p.A38_R44ins2

c.112_132dup21

1 paper

NM_015123.3

p.V52L

c.154G>T