Varaico: Literature-Extracted Genetic Variants

Gene:MAP1A
Variant:p.H1249Q

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.H1249Q
c.3747C>A
Surrounding Variants
1 paper
NM_002373.6
p.H1249Q
c.3747C>G
1 paper
NM_002373.6
p.G1269G
c.3807G>T
1 paper
NM_002373.6
p.R1272*
c.3814C>T
1 paper
NM_002373.6
p.S1221delFs
c.3663delC
1 paper
NM_002373.6
p.D1281E
c.3843T>A
1 paper
NM_002373.6
p.D1281E
c.3843T>G
1 paper
NM_002373.6
p.R1185H
c.3554G>A
1 paper
NM_002373.6
p.R1185C
c.3553C>T
1 paper
NM_002373.6
p.E1178*
c.3532G>T
1 paper
NM_002373.6
p.T1169fs
c.3505_3506fs
1 paper
NM_002373.6
p.T1169delFs
c.3506delC
1 paper
NM_002373.6
p.P1161delFs
c.3481delC
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