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

1 paper

NM_001377265.1

p.G19A

c.56G>C

Surrounding Variants

2 papers

NM_001377265.1

p.G19R

c.55G>A

2 papers

NM_001377265.1

p.G19G

c.57G>A

1 paper

NM_001377265.1

p.G19R

c.55G>C

3 papers

NM_001377265.1

p.Y18Y

c.54C>T

68 papers

NM_001377265.1

p.Y18F

c.53A>T

1 paper

NM_001377265.1

p.L20W

c.59T>G

1 paper

NM_001377265.1

p.L20F

c.60G>C

1 paper

NM_001377265.1

p.L20F

c.60G>T

3 papers

NM_001377265.1

p.Y18N

c.52T>A

1 paper

NM_001377265.1

p.Y18H

c.52T>C

1 paper

NM_001377265.1

p.T17T

c.51G>A

1 paper

NM_001377265.1

p.T17T

c.51G>T