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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NCALD

Variant:p.I51insFs

NCALD

27 papers

RefSeq Summary

This gene encodes a member of the neuronal calcium sensor (NCS) family of calcium-binding proteins. The protein contains an N-terminal myristoylation signal and four EF-hand calcium binding loops. The...

Pfam Domains

EF-hand_1aa 64–92UCSCEF hand domain

EF-hand_7aa 98–174UCSCEF-hand domain pair

Gene Aliases

HGNC Name

neurocalcin delta

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr8:101719478 A>AT

NM_032041.3

p.I51insFs

c.151dupA

exact variant not in gnomAD26 overlapping SVs

Surrounding Variants

1 paper

chr8:101719422 G>A

NM_032041.3

p.R70C

c.208C>T

EF-hand_1

Exome: 0.0% (AC=17, hom=0)Genome: n/a26 overlapping SVs

1 paper

chr8:101719413 C>T

NM_032041.3

p.D73N

c.217G>A

EF-hand_1

Exome: 0.0% (AC=5, hom=0)Genome: 0.0% (AC=1, hom=0)26 overlapping SVs

1 paper

chr8:101719549 GA>G

NM_032041.3

p.I27delFs

c.80delA

exact variant not in gnomAD26 overlapping SVs

1 paper

chr8:101719555 A>C

NM_032041.3

p.H25Q

c.75T>G

Exome: 0.0% (AC=202, hom=0)Genome: n/a26 overlapping SVs

1 paper

chr8:101719586 T>G

NM_032041.3

p.D15A

c.44A>C

exact variant not in gnomAD26 overlapping SVs

1 paper

chr8:101719605 G>A

NM_032041.3

p.R9C

c.25C>T

Exome: 0.0% (AC=10, hom=0)Genome: 0.0% (AC=4, hom=0)26 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."