Varaico: Literature-Extracted Genetic Variants

ASPM

730 papers

RefSeq Summary

This gene is the human ortholog of the Drosophila melanogaster 'abnormal spindle' gene (asp), which is essential for normal mitotic spindle function in embryonic neuroblasts. Studies in mouse also sug...

Pfam Domains

ASHaa 37–134UCSCAbnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin

CHaa 1110–1261UCSCCalponin homology (CH) domain

IQaa 1316–1336UCSCIQ calmodulin-binding motif

IQaa 1348–1368UCSCIQ calmodulin-binding motif

IQaa 1394–1414UCSCIQ calmodulin-binding motif

Gene Aliases

HGNC Name

assembly factor for spindle microtubules

HGNC Previous Symbol

MCPH5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_018136.5

p.K3199*

c.9595A>T

Surrounding Variants

1 paper

NM_018136.5

p.R3198H

c.9593G>A

2 papers

NM_018136.5

p.R3198C

c.9592C>T

3 papers

NM_018136.5

p.Q3201*

c.9601C>T

3 papers

NM_018136.5

p.R3193C

c.9577C>T

2 papers

NM_018136.5

p.A3185_Q3189del5

c.9553_9566del15

1 paper

NM_018136.5

p.I3209T

c.9626T>C

14 papers

NM_018136.5

p.S3186*

c.9557C>G

11 papers

NM_018136.5

p.S3186*

c.9557C>A

1 paper

NM_018136.5

p.Q3212_A3213Splc

c.9636+1G>T

1 paper

NM_018136.5

p.A3185P

c.9553G>C

6 papers

NM_018136.5

p.R3181*

c.9541C>T

9 papers

NM_018136.5

p.Q3180P

c.9539A>C