Varaico: Literature-Extracted Genetic Variants

Gene:CNTNAP3B
Variant:p.S209Y

CNTNAP3B

90 papers

Pfam Domains

F5_F8_type_Caa 43–174UCSCF5/8 type C domain
Laminin_G_2aa 212–341UCSCLaminin G domain
Laminin_G_2aa 398–522UCSCLaminin G domain
EGFaa 551–582UCSCEGF-like domain
Laminin_G_2aa 821–940UCSCLaminin G domain
Laminin_G_2aa 1046–1175UCSCLaminin G domain

Gene Aliases

HGNC Name

contactin associated protein family member 3B

HGNC Previous Name

contactin associated protein like 3B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001201380.3
p.S209Y
c.626C>A
Surrounding Variants
1 paper
NM_001201380.3
p.K198N
c.594A>T
1 paper
NM_001201380.3
p.R224K
c.671G>A
1 paper
NM_001201380.3
p.V275I
c.823G>A
4 papers
NM_001201380.3
p.D281H
c.841G>C
2 papers
NM_001201380.3
p.D281N
c.841G>A
1 paper
NM_001201380.3
p.V288M
c.862G>A
1 paper
NM_001201380.3
p.H291R
c.872A>G
1 paper
NM_001201380.3
p.H294D
c.880C>G
1 paper
NM_001201380.3
p.G299E
c.896G>A
1 paper
NM_001201380.3
p.F312S
c.935T>C
3 papers
NM_001201380.3
p.S317T
c.949T>A
1 paper
NM_001201380.3
p.M357_G358Splc
c.1072-40C>T
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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."