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

2 papers

NM_005909.5

p.V304M

c.910G>A

Surrounding Variants

6 papers

NM_005909.5

p.R303*

c.907C>T

1 paper

NM_005909.5

p.L301_D302insFs

c.903_904insT

2 papers

NM_005909.5

p.R299*

c.895C>T

1 paper

NM_005909.5

p.F294fs

c.880_881fs

1 paper

NM_005909.5

p.F294fs

c.880_881fs

1 paper

NM_005909.5

p.F294delFs

c.881delT

1 paper

NM_005909.5

p.N316Y

c.946A>T

1 paper

NM_005909.5

p.L317F

c.951G>C

1 paper

NM_005909.5

p.R290I

c.869G>T

1 paper

NM_005909.5

p.L317F

c.951G>T

1 paper

NM_005909.5

p.Q325L

c.974A>T

2 papers

NM_005909.5

p.R326Q

c.977G>A