Varaico: Literature-Extracted Genetic Variants

FASTKD2

105 papers

RefSeq Summary

This gene encodes a protein that is localized in the mitochondrial inner compartment and that may play a role in mitochondrial apoptosis. Nonsense mutations have been reported to result in cytochrome ...

Pfam Domains

FAST_1aa 456–529UCSCFAST kinase-like protein, subdomain 1

FAST_2aa 539–619UCSCFAST kinase-like protein, subdomain 2

RAPaa 636–692UCSCRAP domain

Gene Aliases

HGNC Name

FAST kinase domains 2

HGNC Previous Symbol

KIAA0971

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

7 papers

NM_001136193.2

p.R290*

c.868C>T

Surrounding Variants

1 paper

NM_001136193.2

p.V286I

c.856G>A

3 papers

NM_001136193.2

p.S274fs

c.820_821fs

1 paper

NM_001136193.2

p.L270R

c.809T>G

1 paper

NM_001136193.2

p.L270insFs

c.809_810ins11

5 papers

NM_001136193.2

p.L270fs

c.808_809fs

1 paper

NM_001136193.2

p.L270ins2

c.808_809ins6

6 papers

NM_001136193.2

p.L270insFs

c.808_809ins11

1 paper

NM_001136193.2

p.I262V

c.784A>G

1 paper

NM_001136193.2

p.I262F

c.784A>T

1 paper

NM_001136193.2

p.R261H

c.782G>A

1 paper

NM_001136193.2

p.E260G

c.779A>G

1 paper

NM_001136193.2

p.R294Splc

c.882-1G>A