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.F1485L

c.4455C>G

Surrounding Variants

1 paper

NM_001375505.1

p.F1485L

c.4455C>A

1 paper

NM_001375505.1

p.F1485L

c.4453T>C

1 paper

NM_001375505.1

p.T1474S

c.4420A>T

1 paper

NM_001375505.1

p.T1474fs

c.4420_4421fs

1 paper

NM_001375505.1

p.K1472fs

c.4414_4415fs

1 paper

NM_001375505.1

p.E1457D

c.4371A>C

1 paper

NM_001375505.1

p.E1457D

c.4371A>T

1 paper

NM_001375505.1

p.E1442Q

c.4324G>C

1 paper

NM_001375505.1

p.S1398N

c.4193G>A

1 paper

NM_001375505.1

p.D1394D

c.4182T>C

1 paper

NM_001375505.1

p.D1394Splc

c.4180+1G>T

1 paper

NM_001375505.1

p.D1394N

c.4180G>A