Varaico: Literature-Extracted Genetic Variants

Gene:NUMA1
Variant:p.R1253W

NUMA1

226 papers

RefSeq Summary

This gene encodes a large protein that forms a structural component of the nuclear matrix. The encoded protein interacts with microtubules and plays a role in the formation and organization of the mit...

Pfam Domains

HOOK_N_NuMAaa 5–154UCSCNuMA N-terminal hook domain

Gene Aliases

HGNC Name

nuclear mitotic apparatus protein 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006185.4
p.R1253W
c.3757C>T
Surrounding Variants
1 paper
NM_006185.4
p.R1253L
c.3758G>T
1 paper
NM_006185.4
p.E1245D
c.3735G>T
1 paper
NM_006185.4
p.E1245D
c.3735G>C
1 paper
NM_006185.4
p.K1244del1
c.3730_3731delCTT
1 paper
NM_006185.4
p.K1244M
c.3731A>T
1 paper
NM_006185.4
p.R1239P
c.3716G>C
1 paper
NM_006185.4
p.E1233D
c.3699G>T
1 paper
NM_006185.4
p.E1233D
c.3699G>C
1 paper
NM_006185.4
p.R1282S
c.3846A>T
1 paper
NM_006185.4
p.R1282S
c.3846A>C
1 paper
NM_006185.4
p.R1286H
c.3857G>A
1 paper
NM_006185.4
p.R1217Q
c.3650G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."