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.S352R

c.1056T>G

Surrounding Variants

1 paper

NM_015123.3

p.S352R

c.1056T>A

1 paper

NM_015123.3

p.S352R

c.1054A>C

1 paper

NM_015123.3

p.I343V

c.1027A>G

1 paper

NM_015123.3

p.W336C

c.1008G>T

1 paper

NM_015123.3

p.W336C

c.1008G>C

1 paper

NM_015123.3

p.W336*

c.1008G>A

1 paper

NM_015123.3

p.W336*

c.1007G>A

1 paper

NM_015123.3

p.L331L

c.991T>C

1 paper

NM_015123.3

p.R371G

c.1111A>G

4 papers

NM_015123.3

p.T396A

c.1186A>G

1 paper

NM_015123.3

p.T396M

c.1187C>T

1 paper

NM_015123.3

p.G406D

c.1217G>A