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

1 paper

NM_001136193.2

p.N214I

c.641A>T

Surrounding Variants

1 paper

NM_001136193.2

p.A212delFs

c.636delA

1 paper

NM_001136193.2

p.P211R

c.632C>G

1 paper

NM_001136193.2

p.S209T

c.626G>C

7 papers

NM_001136193.2

p.R205*

c.613C>T

1 paper

NM_001136193.2

p.E203Q

c.607G>C

1 paper

NM_001136193.2

p.I191T

c.572T>C

1 paper

NM_001136193.2

p.A238V

c.713C>T

1 paper

NM_001136193.2

p.W189*

c.567G>A

1 paper

NM_001136193.2

p.T248N

c.743C>A

2 papers

NM_001136193.2

p.P180fs

c.538_539fs

2 papers

NM_001136193.2

p.F179delFs

c.537delT

2 papers

NM_001136193.2

p.A176V

c.527C>T