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.A81T

c.241G>A

Surrounding Variants

1 paper

NM_001136193.2

p.Q79R

c.236A>G

1 paper

NM_001136193.2

p.L101F

c.301C>T

2 papers

NM_001136193.2

p.K50R

c.149A>G

1 paper

NM_001136193.2

p.L112fs

c.334_335fs

1 paper

NM_001136193.2

p.D115_Q118delFs

c.343_352del10

1 paper

NM_001136193.2

p.S119F

c.356C>T

1 paper

NM_001136193.2

p.D124Y

c.370G>T

1 paper

NM_001136193.2

p.V35G

c.104T>G

1 paper

NM_001136193.2

p.A21A

c.63G>A

1 paper

NM_001136193.2

p.N141T

c.422A>C

1 paper

NM_001136193.2

p.E142D

c.426A>C

1 paper

NM_001136193.2

p.E142D

c.426A>T