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

1 paper

NM_001375505.1

p.L1000S

c.2999T>C

Surrounding Variants

4 papers

NM_001375505.1

p.G991R

c.2971G>A

4 papers

NM_001375505.1

p.G991R

c.2971G>C

1 paper

NM_001375505.1

p.E981G

c.2942A>G

1 paper

NM_001375505.1

p.V1022insFs

c.3064_3065ins16

1 paper

NM_001375505.1

p.H938R

c.2813A>G

1 paper

NM_001375505.1

p.L1072P

c.3215T>C

1 paper

NM_001375505.1

p.D927N

c.2779G>A

1 paper

NM_001375505.1

p.D1077D

c.3231C>T

3 papers

NM_001375505.1

p.S1081S

c.3243A>G

1 paper

NM_001375505.1

p.A1084V

c.3251C>T

1 paper

NM_001375505.1

p.P1085P

c.3255G>A

1 paper

NM_001375505.1

p.S913L

c.2738C>T