Varaico: Literature-Extracted Genetic Variants

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.G2022D

c.6065G>A

Surrounding Variants

1 paper

NM_005909.5

p.Y2023fs

c.6067_6068fs

1 paper

NM_005909.5

p.T2015A

c.6043A>G

1 paper

NM_005909.5

p.E2012K

c.6034G>A

1 paper

NM_005909.5

p.R2033Q

c.6098G>A

1 paper

NM_005909.5

p.D2036G

c.6107A>G

1 paper

NM_005909.5

p.Y2057_S2058del2

c.6169_6173del6

1 paper

NM_005909.5

p.E1968G

c.5903A>G

3 papers

NM_005909.5

p.R2077H

c.6230G>A

1 paper

NM_005909.5

p.S1965delFs

c.5895delC

1 paper

NM_005909.5

p.V2085A

c.6254T>C

1 paper

NM_005909.5

p.G1953G

c.5859T>C

1 paper

NM_005909.5

p.E2108*

c.6322G>T