Varaico: Literature-Extracted Genetic Variants

Gene:LRRCC1
Variant:p.H69Q

LRRCC1

52 papers

RefSeq Summary

This gene encodes a centrosomal protein that maintains the structural integrity of the centrosome and plays a key role in mitotic spindle formation. The encoded protein contains an N-terminal leucine-...

Pfam Domains

LRR_4aa 65–107UCSCLeucine Rich repeats (2 copies)

Gene Aliases

HGNC Name

leucine rich repeat and coiled-coil centrosomal protein 1

HGNC Alias Symbols

KIAA1764; CLERC; VFL1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_033402.5
p.H69Q
c.207T>A
Surrounding Variants
1 paper
NM_033402.5
p.H69Q
c.207T>G
1 paper
NM_033402.5
p.Q68*
c.202C>T
1 paper
NM_033402.5
p.K88*
c.262A>T
1 paper
NM_033402.5
p.S95F
c.284C>T
4 papers
NM_033402.5
p.S35Splc
c.105-1G>C
3 papers
NM_033402.5
p.S35fs
c.103_104fs
1 paper
NM_033402.5
p.G32V
c.95G>T
1 paper
NM_033402.5
p.K31N
c.93A>C
1 paper
NM_033402.5
p.K31N
c.93A>T
2 papers
NM_033402.5
p.A6V
c.17C>T
1 paper
NM_033402.5
p.A3T
c.7G>A
1 paper
NM_033402.5
p.L163V
c.487C>G
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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."