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.R335S

c.1005G>T

Surrounding Variants

1 paper

NM_001136193.2

p.R335S

c.1005G>C

3 papers

NM_001136193.2

p.E330_M331Splc

c.991-2A>G

1 paper

NM_001136193.2

p.S345N

c.1034G>A

1 paper

NM_001136193.2

p.A354V

c.1061C>T

3 papers

NM_001136193.2

p.R358*

c.1072C>T

1 paper

NM_001136193.2

p.C366Y

c.1097G>A

1 paper

NM_001136193.2

p.C366C

c.1098C>T

1 paper

NM_001136193.2

p.H395Y

c.1183C>T

1 paper

NM_001136193.2

p.N396S

c.1187A>G

1 paper

NM_001136193.2

p.I323I

c.969T>C

1 paper

NM_001136193.2

p.P322L

c.965C>T

1 paper

NM_001136193.2

p.K319R

c.956A>G