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

1–12 of 112 variants

7 papers

NM_001136193.2

p.R205*

c.613C>T

7 papers

NM_001136193.2

p.R290*

c.868C>T

6 papers

NM_001136193.2

p.L255P

c.764T>C

6 papers

NM_001136193.2

p.L270insFs

c.808_809ins11

6 papers

NM_001136193.2

p.I304T

c.911T>C

5 papers

NM_001136193.2

p.S10T

c.29G>C

5 papers

NM_001136193.2

p.L270fs

c.808_809fs

5 papers

NM_001136193.2

p.L620delFs

c.1859delT

5 papers

NM_001136193.2

p.S621fs

c.1861_1862fs

3 papers

NM_001136193.2

p.S274fs

c.820_821fs

3 papers

NM_001136193.2

p.E330_M331Splc

c.991-2A>G

3 papers

NM_001136193.2

p.R358*

c.1072C>T