Varaico: Literature-Extracted Genetic Variants

MAPT

2,873 papers

RefSeq Summary

This gene encodes the microtubule-associated protein tau (MAPT) whose transcript undergoes complex, regulated alternative splicing, giving rise to several mRNA species. MAPT transcripts are differenti...

Pfam Domains

Tubulin-bindingaa 560–591UCSCTau and MAP protein, tubulin-binding repeat

Tubulin-bindingaa 592–622UCSCTau and MAP protein, tubulin-binding repeat

Tubulin-bindingaa 623–653UCSCTau and MAP protein, tubulin-binding repeat

Tubulin-bindingaa 654–685UCSCTau and MAP protein, tubulin-binding repeat

Gene Aliases

HGNC Name

microtubule associated protein tau

HGNC Previous Symbols

DDPAC; MAPTL

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001377265.1

p.R23K

c.68G>A

Surrounding Variants

1 paper

NM_001377265.1

p.R23T

c.68G>C

1 paper

NM_001377265.1

p.R23G

c.67A>G

1 paper

NM_001377265.1

p.R23S

c.69G>C

1 paper

NM_001377265.1

p.R23S

c.69G>T

1 paper

NM_001377265.1

p.D22E

c.66C>A

1 paper

NM_001377265.1

p.D22D

c.66C>T

1 paper

NM_001377265.1

p.D22A

c.65A>C

1 paper

NM_001377265.1

p.K24R

c.71A>G

2 papers

NM_001377265.1

p.K24N

c.72A>C

1 paper

NM_001377265.1

p.D22N

c.64G>A

1 paper

NM_001377265.1

p.D22insFs

c.64_65insC

3 papers

NM_001377265.1

p.D22fs

c.64_65fs