Varaico: Literature-Extracted Genetic Variants

Gene:DISC1
Variant:p.L309L

DISC1

360 papers

RefSeq Summary

This gene encodes a protein with multiple coiled coil motifs which is located in the nucleus, cytoplasm and mitochondria. The protein is involved in neurite outgrowth and cortical development through ...

Pfam Domains

DISC1_Caa 783–826UCSCDISC1 C-terminal domain

Gene Aliases

HGNC Name

DISC1 scaffold protein

HGNC Previous Name

disrupted in schizophrenia 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018662.3
p.L309L
c.927G>A
Surrounding Variants
1 paper
NM_018662.3
p.C312W
c.936T>G
1 paper
NM_018662.3
p.G314C
c.940G>T
1 paper
NM_018662.3
p.D296G
c.887A>G
1 paper
NM_018662.3
p.T328N
c.983C>A
1 paper
NM_018662.3
p.R289H
c.866G>A
1 paper
NM_018662.3
p.R289C
c.865C>T
1 paper
NM_018662.3
p.R331W
c.991A>T
5 papers
NM_018662.3
p.P287L
c.860C>T
1 paper
NM_018662.3
p.V336M
c.1006G>A
4 papers
NM_018662.3
p.R282G
c.844A>G
4 papers
NM_018662.3
p.R338Q
c.1013G>A
1 paper
NM_018662.3
p.D276G
c.827A>G
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