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.V386A

c.1157T>C

Surrounding Variants

2 papers

NM_001377265.1

p.V386M

c.1156G>A

1 paper

NM_001377265.1

p.V386_R399delFs

c.1157_1197del41

1 paper

NM_001377265.1

p.K388_A391del4

c.1162_1172del12

1 paper

NM_001377265.1

p.P384R

c.1151C>G

1 paper

NM_001377265.1

p.P384delFs

c.1150delC

1 paper

NM_001377265.1

p.P384_Q387del4

c.1150_1160del12

5 papers

NM_001377265.1

p.E389K

c.1165G>A

1 paper

NM_001377265.1

p.T383del1

c.1147_1149delACA

2 papers

NM_001377265.1

p.I382insFs

c.1145_1146insA

1 paper

NM_001123066.4

p.I307V

c.919A>G

1 paper

NM_001377265.1

p.E381G

c.1142A>G

2 papers

NM_001377265.1

p.A391V

c.1172C>T