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.G172R

c.514G>A

Surrounding Variants

1 paper

NM_005909.5

p.G172R

c.514G>C

1 paper

NM_005909.5

p.S199A

c.595T>G

1 paper

NM_005909.5

p.F209I

c.625T>A

1 paper

NM_005909.5

p.L214F

c.640C>T

1 paper

NM_005909.5

p.L214insFs

c.641_642insC

1 paper

NM_005909.5

p.L220*

c.659T>A

1 paper

NM_005909.5

p.P242T

c.724C>A

1 paper

NM_005909.5

p.P242R

c.725C>G

1 paper

NM_005909.5

p.F243I

c.727T>A

1 paper

NM_005909.5

p.P248S

c.742C>T

1 paper

NM_005909.5

p.C262F

c.785G>T

4 papers

NM_005909.5

p.G268E

c.803G>A