Varaico: Literature-Extracted Genetic Variants

Gene:CNTNAP3B
Variant:p.R414S

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
7 papers
NM_001201380.3
p.R414S
c.1240C>A
Surrounding Variants
1 paper
NM_001201380.3
p.Q413R
c.1238A>G
1 paper
NM_001201380.3
p.G415R
c.1243G>C
5 papers
NM_001201380.3
p.V420I
c.1258G>A
9 papers
NM_001201380.3
p.L408F
c.1222C>T
3 papers
NM_001201380.3
p.A435T
c.1303G>A
4 papers
NM_001201380.3
p.P439L
c.1316C>T
1 paper
NM_001201380.3
p.P384fs
c.1150_1151fs
1 paper
NM_001201380.3
p.L383_P384insFs
c.1149_1150insT
1 paper
NM_001201380.3
p.M357_G358Splc
c.1072-40C>T
3 papers
NM_001201380.3
p.S317T
c.949T>A
1 paper
NM_001201380.3
p.F312S
c.935T>C
1 paper
NM_001201380.3
p.D470Y
c.1408G>T
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