Varaico: Literature-Extracted Genetic Variants

Gene:ABI3
Variant:p.E270K

ABI3

60 papers

RefSeq Summary

This gene encodes a member of an adaptor protein family. Members of this family encode proteins containing a homeobox homology domain, proline rich region and Src-homology 3 (SH3) domain, and are comp...

Pfam Domains

ABIaa 5–79UCSCAbl interactor protein
Abi_HHRaa 93–165UCSCAbl-interactor HHR
SH3_9aa 315–363UCSCVariant SH3 domain

Gene Aliases

HGNC Name

ABI family member 3

HGNC Alias Symbols

NESH; SSH3BP3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016428.3
p.E270K
c.808G>A
Surrounding Variants
1 paper
NM_016428.3
p.P278H
c.833C>A
1 paper
NM_016428.3
p.F329Y
c.986T>A
1 paper
NM_016428.3
p.R339H
c.1016G>A
1 paper
NM_016428.3
p.S342fs
c.1024_1025fs
1 paper
NM_016428.3
p.D343insFs
c.1027dupG
1 paper
NM_016428.3
p.L262F
c.786G>C
1 paper
NM_016428.3
p.L262F
c.786G>T
1 paper
NM_016428.3
p.P244S
c.730C>T
1 paper
NM_016428.3
p.S240F
c.719C>T
1 paper
NM_016428.3
p.A214G
c.641C>G
1 paper
NM_016428.3
p.S210F
c.629C>T
6 papers
NM_016428.3
p.F209S
c.626T>C
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