Varaico: Literature-Extracted Genetic Variants

MAP2

502 papers

RefSeq Summary

This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neu...

Pfam Domains

MAP2_projctnaa 377–1505UCSCMAP2/Tau projection domain

Tubulin-bindingaa 1660–1691UCSCTau and MAP protein, tubulin-binding repeat

Tubulin-bindingaa 1692–1722UCSCTau and MAP protein, tubulin-binding repeat

Tubulin-bindingaa 1723–1754UCSCTau and MAP protein, tubulin-binding repeat

Gene Aliases

HGNC Name

microtubule associated protein 2

HGNC Alias Symbols

MAP2A; MAP2B; MAP2C

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001375505.1

p.S199A

c.595T>G

Surrounding Variants

1 paper

NM_001375505.1

p.L197fs

c.589_590fs

1 paper

NM_001375505.1

p.L197delFs

c.589delT

2 papers

NM_001375505.1

p.L192P

c.575T>C

1 paper

NM_001375505.1

p.Y207C

c.620A>G

1 paper

NM_001375505.1

p.Y207*

c.621C>G

1 paper

NM_001375505.1

p.K211*

c.631A>T

1 paper

NM_001375505.1

p.M213L

c.637A>C

1 paper

NM_001375505.1

p.M213L

c.637A>T

1 paper

NM_001375505.1

p.Q185*

c.553C>T

1 paper

NM_001375505.1

p.E183K

c.547G>A

1 paper

NM_001375505.1

p.E179G

c.536A>G

1 paper

NM_001375505.1

p.K220E

c.658A>G