Varaico: Literature-Extracted Genetic Variants

Gene:DISC1
Variant:p.E384A

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.E384A
c.1151A>C
Surrounding Variants
1 paper
NM_018662.3
p.E384*
c.1150G>T
1 paper
NM_018662.3
p.D382A
c.1145A>C
1 paper
NM_018662.3
p.E381A
c.1142A>C
1 paper
NM_018662.3
p.I388T
c.1163T>C
1 paper
NM_018662.3
p.S389I
c.1166G>T
1 paper
NM_018662.3
p.L376L
c.1126T>C
1 paper
NM_018662.3
p.T375A
c.1123A>G
1 paper
NM_018662.3
p.E374A
c.1121A>C
1 paper
NM_018662.3
p.L394P
c.1181T>C
1 paper
NM_018662.3
p.P395P
c.1185T>C
1 paper
NM_018662.3
p.S402N
c.1205G>A
1 paper
NM_018662.3
p.G406R
c.1216G>C
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