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.Y554*

c.1662T>A

Surrounding Variants

1 paper

NM_001136193.2

p.Y554*

c.1662T>G

1 paper

NM_001136193.2

p.D544H

c.1630G>C

1 paper

NM_001136193.2

p.P566L

c.1697C>T

1 paper

NM_001136193.2

p.H541R

c.1622A>G

1 paper

NM_001136193.2

p.Y538*

c.1614C>A

1 paper

NM_001136193.2

p.Y538*

c.1614C>G

1 paper

NM_001136193.2

p.G590*

c.1768G>T

5 papers

NM_001136193.2

p.L620delFs

c.1859delT

2 papers

NM_001136193.2

p.S621fs

c.1861_1862fs

5 papers

NM_001136193.2

p.S621fs

c.1861_1862fs

1 paper

NM_001136193.2

p.D622G

c.1865A>G

1 paper

NM_001136193.2

p.D630G

c.1889A>G