Varaico: Literature-Extracted Genetic Variants

ANKRD2

16 papers

RefSeq Summary

This gene encodes a protein that belongs to the muscle ankyrin repeat protein (MARP) family. A similar gene in rodents is a component of a muscle stress response pathway and plays a role in the stretc...

Pfam Domains

Ank_2aa 102–184UCSCAnkyrin repeats (3 copies)

Ank_2aa 152–244UCSCAnkyrin repeats (3 copies)

Ank_2aa 161–250UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

ankyrin repeat domain 2

HGNC Previous Name

ankyrin repeat domain 2 (stretch responsive muscle)

Papers

RefSeq ID

Protein change

DNA change

1–12 of 17 variants

3 papers

NM_001346793.2

p.V62M

c.184G>A

1 paper

NM_001346793.2

p.L39M

c.115C>A

1 paper

NM_001346793.2

p.K50*

c.148A>T

1 paper

NM_001346793.2

p.R92W

c.274C>T

1 paper

NM_001346793.2

p.A129S

c.385G>T

1 paper

NM_001346793.2

p.S146L

c.437C>T

1 paper

NM_001346793.2

p.D148N

c.442G>A

1 paper

NM_001346793.2

p.L163fs

c.487_488fs

1 paper

NM_001346793.2

p.G197R

c.589G>A

1 paper

NM_001346793.2

p.G197R

c.589G>C

1 paper

NM_001346793.2

p.E237K

c.709G>A

1 paper

NM_001346793.2

p.L244P

c.731T>C