Varaico: Literature-Extracted Genetic Variants

Gene:MAP2
Variant:p.G1305W

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.G1305W
c.3913G>T
Surrounding Variants
1 paper
NM_001375505.1
p.V1309G
c.3926T>G
1 paper
NM_001375505.1
p.A1312E
c.3935C>A
1 paper
NM_001375505.1
p.A1313V
c.3938C>T
1 paper
NM_001375505.1
p.E1288K
c.3862G>A
1 paper
NM_001375505.1
p.V1284I
c.3850G>A
1 paper
NM_001375505.1
p.E1330Q
c.3988G>C
1 paper
NM_001375505.1
p.F1331F
c.3993T>C
1 paper
NM_001375505.1
p.P1343L
c.4028C>T
1 paper
NM_001375505.1
p.R1266S
c.3798G>C
1 paper
NM_001375505.1
p.R1266S
c.3798G>T
1 paper
NM_001375505.1
p.E1358*
c.4072G>T
1 paper
NM_001375505.1
p.K1247N
c.3741A>C
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