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.E254*

c.760G>T

Surrounding Variants

1 paper

NM_001377265.1

p.T253_E254delFs

c.759_760delAG

2 papers

NM_001377265.1

p.T253fs

c.757_758fs

1 paper

NM_001377265.1

p.G255R

c.763G>C

1 paper

NM_001377265.1

p.G255V

c.764G>T

8 papers

NM_001123066.4

p.D177V

c.530A>T

NM_016835.5

p.D252V

c.755A>T

1 paper

NM_001123066.4

p.D177_G180delFs

c.531_540del10

1 paper

NM_001377265.1

p.G255_G256ins1

c.765_766insAGG

1 paper

NM_001377265.1

p.D252N

c.754G>A

1 paper

NM_001377265.1

p.D252H

c.754G>C

2 papers

NM_001377265.1

p.D252Y

c.754G>T

1 paper

NM_001377265.1

p.R257C

c.769C>T

2 papers

NM_001377265.1

p.P250T

c.748C>A