Varaico: Literature-Extracted Genetic Variants

Gene:MAP1A
Variant:p.R2716H

MAP1A

222 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

MAPB1_Naa 57–251UCSCMicrotubule-associated protein 1B N-terminal
MBL_MAP1Baa 256–539UCSCMAP1B MBL-like domain

Gene Aliases

HGNC Name

microtubule associated protein 1A

HGNC Previous Symbol

MAP1L

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002373.6
p.R2716H
c.8147G>A
Surrounding Variants
1 paper
NM_002373.6
p.A2717V
c.8150C>T
1 paper
NM_002373.6
p.G2724R
c.8170G>A
1 paper
NM_002373.6
p.G2724R
c.8170G>C
1 paper
NM_002373.6
p.P2690S
c.8068C>T
1 paper
NM_002373.6
p.N2672S
c.8015A>G
1 paper
NM_002373.6
p.R2648H
c.7943G>A
3 papers
NM_002373.6
p.R2620W
c.7858C>T
1 paper
NM_002373.6
p.A2619A
c.7857A>G
1 paper
NM_002373.6
p.G2606E
c.7817G>A
1 paper
NM_002373.6
p.R2591K
c.7772G>A
1 paper
NM_002373.6
p.R2574H
c.7721G>A
1 paper
NM_002373.6
p.R2569fs
c.7705_7706fs
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