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.K795delFs

c.2383_2384delTT

Surrounding Variants

1 paper

NM_015123.3

p.K795fs

c.2383_2384fs

1 paper

NM_015123.3

p.D816G

c.2447A>G

1 paper

NM_015123.3

p.S774L

c.2321C>T

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.D757G

c.2270A>G

1 paper

NM_015123.3

p.P837S

c.2509C>T

1 paper

NM_015123.3

p.P837H

c.2510C>A

1 paper

NM_015123.3

p.R840L

c.2519G>T

1 paper

NM_015123.3

p.E848K

c.2542G>A

1 paper

NM_015123.3

p.V865A

c.2594T>C

1 paper

NM_015123.3

p.S883L

c.2648C>T