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

5 papers

NM_015123.3

p.A541G

c.1622C>G

Surrounding Variants

1 paper

NM_015123.3

p.R556Q

c.1667G>A

1 paper

NM_015123.3

p.K562E

c.1684A>G

1 paper

NM_015123.3

p.Q501E

c.1501C>G

1 paper

NM_015123.3

p.V481E

c.1442T>A

1 paper

NM_015123.3

p.Q476K

c.1426C>A

1 paper

NM_015123.3

p.P475L

c.1424C>T

1 paper

NM_015123.3

p.K449E

c.1345A>G

1 paper

NM_015123.3

p.E447G

c.1340A>G

2 papers

NM_015123.3

p.V418I

c.1252G>A

1 paper

NM_015123.3

p.G406D

c.1217G>A

1 paper

NM_015123.3

p.T396M

c.1187C>T

4 papers

NM_015123.3

p.T396A

c.1186A>G