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.S1265*

c.3794C>A

Surrounding Variants

1 paper

NM_005909.5

p.S1265*

c.3794C>G

1 paper

NM_005909.5

p.L1272insFs

c.3814dupC

1 paper

NM_005909.5

p.L1272fs

c.3814_3815fs

1 paper

NM_005909.5

p.S1258P

c.3772T>C

1 paper

NM_005909.5

p.P1257L

c.3770C>T

1 paper

NM_005909.5

p.P1257insFs

c.3769_3770dupCC

1 paper

NM_005909.5

p.S1254L

c.3761C>T

1 paper

NM_005909.5

p.S1252G

c.3754A>G

1 paper

NM_005909.5

p.V1251F

c.3751G>T

1 paper

NM_005909.5

p.T1282S

c.3844A>T

1 paper

NM_005909.5

p.S1247*

c.3740C>A

1 paper

NM_005909.5

p.S1247*

c.3740C>G