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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KCNIP2

Variant:p.R6C

KCNIP2

33 papers

RefSeq Summary

This gene encodes a member of the family of voltage-gated potassium (Kv) channel-interacting proteins (KCNIPs), which belongs to the recoverin branch of the EF-hand superfamily. Members of the KCNIP f...

Pfam Domains

EF-hand_8aa 119–171UCSCEF-hand domain pair

EF-hand_7aa 178–254UCSCEF-hand domain pair

Gene Aliases

HGNC Name

potassium voltage-gated channel interacting protein 2

HGNC Alias Symbol

KCHIP2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr10:101843553 G>A

NM_173191.3

p.R6C

c.16C>T

Exome: 0.0% (AC=54, hom=1)Genome: 0.0% (AC=3, hom=0)28 overlapping SVs

Surrounding Variants

1 paper

chr10:101843553 GCG>N

NM_173191.3

p.R6fs

c.16_17fs

exact variant not in gnomAD28 overlapping SVs

1 paper

chr10:101843524 G>T

NM_173191.3

p.D15E

c.45C>A

Exome: 0.0% (AC=0, hom=0)Genome: n/a28 overlapping SVs

1 paper

chr10:101843523 G>T

NM_173191.3

p.L16M

c.46C>A

Exome: 0.0% (AC=0, hom=0)Genome: n/a28 overlapping SVs

1 paper

chr10:101843405 G>T

NM_173191.3

p.G25Splc

c.73+91C>A

Exome: 26.5% (AC=164217, hom=23095)Genome: 21.1% (AC=32065, hom=4072)28 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."