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

7 papers

NM_001377265.1

p.R155H

c.464G>A

Surrounding Variants

4 papers

NM_001377265.1

p.R155P

c.464G>C

1 paper

NM_001377265.1

p.R155insFs

c.464dupG

5 papers

NM_001377265.1

p.R155C

c.463C>T

1 paper

NM_001377265.1

p.V157_P162insFs

c.469_484dup16

1 paper

NM_001377265.1

p.P156R

c.467C>G

1 paper

NM_001377265.1

p.P156_V157delFs

c.468_469delCG

1 paper

NM_001377265.1

p.H154Y

c.460C>T

1 paper

NM_001377265.1

p.Q153R

c.458A>G

1 paper

NM_001377265.1

p.Q153insFs

c.458dupA

1 paper

NM_001377265.1

p.C158R

c.472T>C

1 paper

NM_001377265.1

p.P152H

c.455C>A

2 papers

NM_001377265.1

p.C158Y

c.473G>A