Varaico: Literature-Extracted Genetic Variants

Gene:MAP2
Variant:p.G691V

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.G691V
c.2072G>T
Surrounding Variants
1 paper
NM_001375505.1
p.G691S
c.2071G>A
1 paper
NM_001375505.1
p.N703S
c.2108A>G
1 paper
NM_001375505.1
p.P705L
c.2114C>T
1 paper
NM_001375505.1
p.P705P
c.2115G>A
2 papers
NM_001375505.1
p.I712V
c.2134A>G
1 paper
NM_001375505.1
p.E669V
c.2006A>T
1 paper
NM_001375505.1
p.A713D
c.2138C>A
1 paper
NM_001375505.1
p.G715E
c.2144G>A
1 paper
NM_001375505.1
p.G719D
c.2156G>A
1 paper
NM_001375505.1
p.L727V
c.2179C>G
1 paper
NM_001375505.1
p.D730N
c.2188G>A
1 paper
NM_001375505.1
p.D740N
c.2218G>A
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