Varaico: Literature-Extracted Genetic Variants

Gene:DISC1
Variant:p.A40T

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.A40T
c.118G>A
Surrounding Variants
1 paper
NM_018662.3
p.A40E
c.119C>A
1 paper
NM_018662.3
p.L39P
c.116T>C
3 papers
NM_018662.3
p.R41W
c.121C>T
1 paper
NM_018662.3
p.R38Q
c.113G>A
1 paper
NM_018662.3
p.R38W
c.112C>T
17 papers
NM_018662.3
p.R37W
c.109C>T
1 paper
NM_018662.3
p.R36T
c.107G>C
1 paper
NM_018662.3
p.R35W
c.103C>T
1 paper
NM_018662.3
p.T50_G51delFs
c.150_153del4
3 papers
NM_018662.3
p.R25Q
c.74G>A
1 paper
NM_018662.3
p.R25W
c.73C>T
1 paper
NM_018662.3
p.S24delFs
c.71delG
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