Varaico: Literature-Extracted Genetic Variants

Gene:CGB2
Variant:p.L70insFs

CGB2

11 papers

RefSeq Summary

The beta subunit of chorionic gonadotropin (CGB) is encoded by six highly homologous and structurally similar genes that are arranged in tandem and inverted pairs on chromosome 19q13.3, and contiguous...

Pfam Domains

Cys_knotaa 24–128UCSCCystine-knot domain

Gene Aliases

HGNC Name

chorionic gonadotropin subunit beta 2

HGNC Previous Names

chorionic gonadotropin, beta polypeptide 2; chorionic gonadotropin beta subunit 2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_033378.2
p.L70insFs
c.208dupC
Surrounding Variants
1 paper
NM_033378.2
p.V66delFs
c.196delG
1 paper
NM_033378.2
p.Q64*
c.190C>T
1 paper
NM_033378.2
p.S84C
c.251C>G
1 paper
NM_033378.2
p.C90*
c.270C>A
1 paper
NM_033378.2
p.P96R
c.287C>G
1 paper
NM_033378.2
p.C118*
c.354C>A
1 paper
NM_033378.2
p.R132insFs
c.395dupG
1 paper
NM_033378.2
p.A135D
c.404C>A
1 paper
NM_033378.2
p.S136delFs
c.406delT
1 paper
NM_033378.2
p.P144delFs
c.432delC
1 paper
NM_033378.2
p.S148delFs
c.442delA
1 paper
NM_033378.2
p.R151*
c.451C>T
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