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

4 papers

NM_001377265.1

p.R297C

c.889C>T

Surrounding Variants

1 paper

NM_001377265.1

p.R297S

c.889C>A

1 paper

NM_001377265.1

p.R297H

c.890G>A

1 paper

NM_001377265.1

p.D296A

c.887A>C

1 paper

NM_001377265.1

p.D296N

c.886G>A

1 paper

NM_001377265.1

p.E295D

c.885A>C

2 papers

NM_001377265.1

p.E295D

c.885A>T

1 paper

NM_001377265.1

p.E295K

c.883G>A

5 papers

NM_001123066.4

p.V224G

c.671T>G

NM_001377265.1

p.V299G

c.896T>G

1 paper

NM_001377265.1

p.D294E

c.882T>G

1 paper

NM_001377265.1

p.V299ins1

c.896_897insACA

1 paper

NM_001377265.1

p.E295_P308del14

c.883_923del42

1 paper

NM_001377265.1

p.D300N

c.898G>A