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

2 papers

NM_001136193.2

p.F179delFs

c.537delT

Surrounding Variants

2 papers

NM_001136193.2

p.P180fs

c.538_539fs

2 papers

NM_001136193.2

p.A176V

c.527C>T

1 paper

NM_001136193.2

p.W189*

c.567G>A

1 paper

NM_001136193.2

p.L166fs

c.496_497fs

1 paper

NM_001136193.2

p.I191T

c.572T>C

2 papers

NM_001136193.2

p.L166delFs

c.496_497delCT

2 papers

NM_001136193.2

p.S160fs

c.478_479fs

2 papers

NM_001136193.2

p.S160_E161delFs

c.478_481del4

1 paper

NM_001136193.2

p.E203Q

c.607G>C

7 papers

NM_001136193.2

p.R205*

c.613C>T

1 paper

NM_001136193.2

p.S209T

c.626G>C

1 paper

NM_001136193.2

p.T146A

c.436A>G