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

5 papers

NM_001377265.1

p.V380L

c.1138G>T

Surrounding Variants

5 papers

NM_001377265.1

p.V380L

c.1138G>C

1 paper

NM_001377265.1

p.H379H

c.1137C>T

1 paper

NM_001377265.1

p.V380_E381del2

c.1138_1142del6

2 papers

NM_001377265.1

p.H379fs

c.1135_1136fs

2 papers

NM_001377265.1

p.I382insFs

c.1144_1145insA

1 paper

NM_001377265.1

p.E381G

c.1142A>G

1 paper

NM_001123066.4

p.I307V

c.919A>G

1 paper

NM_001123066.4

p.F303delFs

c.908_909delTT

2 papers

NM_001377265.1

p.I382insFs

c.1145_1146insA

1 paper

NM_001377265.1

p.T377K

c.1130C>A

1 paper

NM_001377265.1

p.T383del1

c.1147_1149delACA

1 paper

NM_001377265.1

p.T377A

c.1129A>G