Varaico: Literature-Extracted Genetic Variants

Gene:CNTNAP3B
Variant:p.A1150A

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.A1150A
c.3450C>A
Surrounding Variants
1 paper
NM_001201380.3
p.A1149_A1150insT
c.3445_3449ins3
2 papers
NM_001201380.3
p.G1163D
c.3488G>A
4 papers
NM_001201380.3
p.F1173L
c.3517T>C
4 papers
NM_001201380.3
p.F1173L
c.3519C>G
4 papers
NM_001201380.3
p.F1173L
c.3519C>A
1 paper
NM_001201380.3
p.A1182A
c.3546G>T
1 paper
NM_001201380.3
p.G1187C
c.3559G>T
1 paper
NM_001201380.3
p.G1195R
c.3583G>C
1 paper
NM_001201380.3
p.G1206W
c.3616G>T
4 papers
NM_001201380.3
p.R1214W
c.3640C>T
1 paper
NM_001201380.3
p.A1221fs
c.3661_3662fs
1 paper
NM_001201380.3
p.A1221insFs
c.3663dupG
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