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.A2ins1

c.4_5insTAC

Surrounding Variants

5 papers

NM_001377265.1

p.A2T

c.4G>A

3 papers

NM_001377265.1

p.A2P

c.4G>C

2 papers

NM_001377265.1

p.A2S

c.4G>T

1 paper

NM_001377265.1

p.A2insFs

c.6dupT

1 paper

NM_001377265.1

p.A2G

c.5C>G

8 papers

NM_001377265.1

p.A2V

c.5C>T

4 papers

NM_001377265.1

p.A2_E3delFs

c.6_9del4

10 papers

NM_001377265.1

p.M1I

c.3G>A

3 papers

NM_001377265.1

p.M1I

c.3G>C

2 papers

NM_001377265.1

p.M1I

c.3G>T

1 paper

NM_001377265.1

p.M1K

c.2T>A

6 papers

NM_001377265.1

p.M1T

c.2T>C