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.D38N

c.112G>A

Surrounding Variants

1 paper

NM_001377265.1

p.D38H

c.112G>C

1 paper

NM_001377265.1

p.D38A

c.113A>C

2 papers

NM_001377265.1

p.G37D

c.110G>A

3 papers

NM_001377265.1

p.G37A

c.110G>C

1 paper

NM_001377265.1

p.T39A

c.115A>G

2 papers

NM_001377265.1

p.G37S

c.109G>A

17 papers

NM_001377265.1

p.G37R

c.109G>C

1 paper

NM_001377265.1

p.T39R

c.116C>G

5 papers

NM_001377265.1

p.T39M

c.116C>T

1 paper

NM_001377265.1

p.E36G

c.107A>G

2 papers

NM_001377265.1

p.E36V

c.107A>T

1 paper

NM_001377265.1

p.E36delFs

c.108delG