Varaico: Literature-Extracted Genetic Variants

Gene:CNTNAP3B
Variant:p.D549_R550delFs

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.D549_R550delFs
c.1646_1649del4
Surrounding Variants
1 paper
NM_001201380.3
p.D549fs
c.1645_1646fs
1 paper
NM_001201380.3
p.D539H
c.1615G>C
3 papers
NM_001201380.3
p.L534fs
c.1600_1601fs
1 paper
NM_001201380.3
p.L534fs
c.1600_1601fs
7 papers
NM_001201380.3
p.A533delFs
c.1599delC
3 papers
NM_001201380.3
p.A533fs
c.1597_1598fs
2 papers
NM_001201380.3
p.A533S
c.1597G>T
1 paper
NM_001201380.3
p.L528V
c.1582T>G
1 paper
NM_001201380.3
p.G520A
c.1559G>C
2 papers
NM_001201380.3
p.G496D
c.1487G>A
2 papers
NM_001201380.3
p.P553L
c.1658C>T
1 paper
NM_001201380.3
p.D572E
c.1716C>G
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