Varaico: Literature-Extracted Genetic Variants

Gene:NUMA1
Variant:p.L1638P

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.L1638P
c.4913T>C
Surrounding Variants
2 papers
NM_006185.4
p.R1636Q
c.4907G>A
2 papers
NM_006185.4
p.H1657Q
c.4971T>G
2 papers
NM_006185.4
p.H1657Q
c.4971T>A
1 paper
NM_006185.4
p.L1655_L1659delFs
c.4965_4977del13
1 paper
NM_006185.4
p.Q1661L
c.4982A>T
1 paper
NM_006185.4
p.A1669fs
c.5005_5006fs
1 paper
NM_006185.4
p.A1669_C1673delFs
c.5007_5019del13
1 paper
NM_006185.4
p.H1675L
c.5024A>T
9 papers
NM_001286561.2
p.R1667C
c.4999C>T
NM_006185.4
p.R1681C
c.5041C>T
1 paper
NM_006185.4
p.Q1613_M1614Splc
c.4839+15C>G
1 paper
NM_006185.4
p.Q1613*
c.4837C>T
1 paper
NM_006185.4
p.E1608E
c.4824G>A
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