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.I498I

c.1494C>T

Surrounding Variants

2 papers

NM_005909.5

p.R486*

c.1456C>T

1 paper

NM_005909.5

p.I484I

c.1452C>T

1 paper

NM_005909.5

p.G523C

c.1567G>T

1 paper

NM_005909.5

p.Q524H

c.1572G>C

1 paper

NM_005909.5

p.Q524H

c.1572G>T

1 paper

NM_005909.5

p.K531Fs

c.1592_1593delinsAFs

4 papers

NM_005909.5

p.Q532*

c.1594C>T

1 paper

NM_005909.5

p.P462R

c.1385C>G

1 paper

NM_005909.5

p.R542*

c.1624C>T

1 paper

NM_005909.5

p.E543Q

c.1627G>C

1 paper

NM_005909.5

p.E450K

c.1348G>A

1 paper

NM_005909.5

p.A549S

c.1645G>T