Varaico: Literature-Extracted Genetic Variants

Gene:MAP2
Variant:p.L225F

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.L225F
c.675G>T
Surrounding Variants
1 paper
NM_001375505.1
p.L225F
c.675G>C
1 paper
NM_001375505.1
p.K220E
c.658A>G
1 paper
NM_001375505.1
p.E235fs
c.703_704fs
1 paper
NM_001375505.1
p.E235D
c.705A>C
1 paper
NM_001375505.1
p.E235D
c.705A>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.K240Q
c.718A>C
1 paper
NM_001375505.1
p.K211*
c.631A>T
1 paper
NM_001375505.1
p.P243L
c.728C>T
1 paper
NM_001375505.1
p.Y207*
c.621C>G
1 paper
NM_001375505.1
p.Y207C
c.620A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."