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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NDFIP1

NDFIP1

20 papers

RefSeq Summary

The protein encoded by this gene belongs to a small group of evolutionarily conserved proteins with three transmembrane domains. It is a potential target for ubiquitination by the Nedd4 family of prot...

Pfam Domains

NEDD4_Bsd2aa 110–173UCSCNEDD4/Bsd2

NEDD4_Bsd2aa 166–212UCSCNEDD4/Bsd2

Gene Aliases

HGNC Name

Nedd4 family interacting protein 1

HGNC Alias Symbols

N4WBP5; MGC10924

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

2 papers

chr5:142144615 C>T

NM_030571.4

p.R203W

c.607C>T

NEDD4_Bsd2

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=1, hom=0)43 overlapping SVs

1 paper

chr5:142108987 T>G

NM_030571.4

p.L5V

c.13T>G

Exome: 0.1% (AC=1520, hom=34)Genome: 1.3% (AC=2033, hom=51)43 overlapping SVs

1 paper

chr5:142108996 C>A

NM_030571.4

p.L8M

c.22C>A

Exome: 0.0% (AC=1, hom=0)Genome: n/a43 overlapping SVs

1 paper

chr5:142109027 G>T

NM_030571.4

p.R18L

c.53G>T

Exome: 0.0% (AC=0, hom=0)Genome: n/a43 overlapping SVs

1 paper

chr5:142132244 C>A

NM_030571.4

p.P62T

c.184C>A

exact variant not in gnomAD45 overlapping SVs

1 paper

chr5:142132248 A>G

NM_030571.4

p.K63R

c.188A>G

exact variant not in gnomAD45 overlapping SVs

1 paper

chr5:142135782 T>A

NM_030571.4

p.I112K

c.335T>A

NEDD4_Bsd2

exact variant not in gnomAD43 overlapping SVs

1 paper

chr5:142140628 A>G

NM_030571.4

p.L187L

c.561A>G

NEDD4_Bsd2

exact variant not in gnomAD43 overlapping SVs

1 paper

chr5:142144607 C>A

NM_030571.4

p.A200E

c.599C>A

NEDD4_Bsd2

exact variant not in gnomAD43 overlapping SVs

1 paper

chr5:142144612 G>A

NM_030571.4

p.V202I

c.604G>A

NEDD4_Bsd2

exact variant not in gnomAD43 overlapping SVs

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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."