Varaico: Literature-Extracted Genetic Variants

Gene:FRMD4B
Variant:p.Y32*

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.Y32*
c.96C>A
Surrounding Variants
1 paper
NM_015123.3
p.Y32*
c.96C>G
1 paper
NM_015123.3
p.A38_R44ins2
c.112_132dup21
1 paper
NM_015123.3
p.L13L
c.39G>C
1 paper
NM_015123.3
p.V52L
c.154G>T
1 paper
NM_015123.3
p.V52L
c.154G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."