Varaico: Literature-Extracted Genetic Variants

Gene:MAP1B
Variant:p.E1523K

MAP1B

251 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 39–235UCSCMicrotubule-associated protein 1B N-terminal
MBL_MAP1Baa 240–523UCSCMAP1B MBL-like domain
MAP1B_neuraxinaa 1878–1894UCSCNeuraxin and MAP1B repeat
MAP1B_neuraxinaa 1895–1911UCSCNeuraxin and MAP1B repeat
MAP1B_neuraxinaa 1929–1945UCSCNeuraxin and MAP1B repeat
MAP1B_neuraxinaa 1963–1979UCSCNeuraxin and MAP1B repeat

Gene Aliases

HGNC Name

microtubule associated protein 1B

HGNC Alias Symbols

MAP5; PPP1R102

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005909.5
p.E1523K
c.4567G>A
Surrounding Variants
1 paper
NM_005909.5
p.E1515*
c.4543G>T
1 paper
NM_005909.5
p.D1535Y
c.4603G>T
1 paper
NM_005909.5
p.M1546T
c.4637T>C
1 paper
NM_005909.5
p.G1548G
c.4644T>G
3 papers
NM_005909.5
p.V1549G
c.4646T>G
1 paper
NM_005909.5
p.P1565Q
c.4694C>A
1 paper
NM_005909.5
p.D1464Y
c.4390G>T
1 paper
NM_005909.5
p.E1611V
c.4832A>T
1 paper
NM_005909.5
p.F1624V
c.4870T>G
1 paper
NM_005909.5
p.S1625C
c.4874C>G
1 paper
NM_005909.5
p.V1635I
c.4903G>A
6 papers
NM_005909.5
p.S1400G
c.4198A>G
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