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

2 papers

NM_001377265.1

p.D34delFs

c.102delC

Surrounding Variants

1 paper

NM_001377265.1

p.D34A

c.101A>C

1 paper

NM_001377265.1

p.Q35_L43del0

c.104_127del24

1 paper

NM_001377265.1

p.D34D

c.102C>T

1 paper

NM_001377265.1

p.D34Y

c.100G>T

1 paper

NM_001377265.1

p.Q35_G37ins1

c.105_110dup6

1 paper

NM_001377265.1

p.Q33R

c.98A>G

1 paper

NM_001377265.1

p.Q33E

c.97C>G

5 papers

NM_001377265.1

p.Q33*

c.97C>T

1 paper

NM_001377265.1

p.E36K

c.106G>A

1 paper

NM_001377265.1

p.E36Q

c.106G>C

1 paper

NM_001377265.1

p.H32P

c.95A>C

1 paper

NM_001377265.1

p.H32R

c.95A>G