Varaico: Literature-Extracted Genetic Variants

Gene:MAP2
Variant:p.V1167I

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
2 papers
NM_001375505.1
p.V1167I
c.3499G>A
Surrounding Variants
1 paper
NM_001375505.1
p.E1153Q
c.3457G>C
1 paper
NM_001375505.1
p.P1208T
c.3622C>A
1 paper
NM_001375505.1
p.L1119V
c.3355T>G
1 paper
NM_001375505.1
p.D1216V
c.3647A>T
1 paper
NM_001375505.1
p.K1247N
c.3741A>C
1 paper
NM_001375505.1
p.K1247N
c.3741A>T
1 paper
NM_001375505.1
p.P1085P
c.3255G>A
1 paper
NM_001375505.1
p.A1084V
c.3251C>T
3 papers
NM_001375505.1
p.S1081S
c.3243A>G
1 paper
NM_001375505.1
p.D1077D
c.3231C>T
1 paper
NM_001375505.1
p.L1072P
c.3215T>C
1 paper
NM_001375505.1
p.R1266S
c.3798G>C
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