Varaico: Literature-Extracted Genetic Variants

Gene:CNTNAP3B
Variant:p.L574L

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.L574L
c.1722A>G
Surrounding Variants
7 papers
NM_001201380.3
p.C573G
c.1717T>G
1 paper
NM_001201380.3
p.T576I
c.1727C>T
1 paper
NM_001201380.3
p.D572E
c.1716C>G
1 paper
NM_001201380.3
p.D572E
c.1716C>A
1 paper
NM_001201380.3
p.T582P
c.1744A>C
2 papers
NM_001201380.3
p.P553L
c.1658C>T
1 paper
NM_001201380.3
p.S586Splc
c.1757-13T>G
1 paper
NM_001201380.3
p.A594T
c.1780G>A
2 papers
NM_001201380.3
p.L615fs
c.1843_1844fs
2 papers
NM_001201380.3
p.L615delFs
c.1844delA
1 paper
NM_001201380.3
p.D549_R550delFs
c.1646_1649del4
1 paper
NM_001201380.3
p.D549fs
c.1645_1646fs
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