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.P322L

c.965C>T

Surrounding Variants

1 paper

NM_001136193.2

p.I323I

c.969T>C

1 paper

NM_001136193.2

p.K319R

c.956A>G

1 paper

NM_001136193.2

p.K319I

c.956A>T

6 papers

NM_001136193.2

p.I304T

c.911T>C

2 papers

NM_001136193.2

p.W302*

c.906G>A

2 papers

NM_001136193.2

p.W302*

c.905G>A

1 paper

NM_001136193.2

p.D298N

c.892G>A

1 paper

NM_001136193.2

p.R294Splc

c.882-1G>A

3 papers

NM_001136193.2

p.E330_M331Splc

c.991-2A>G

1 paper

NM_001136193.2

p.R335S

c.1005G>C

1 paper

NM_001136193.2

p.R335S

c.1005G>T

1 paper

NM_001136193.2

p.S345N

c.1034G>A