Varaico: Literature-Extracted Genetic Variants

Gene:ASB4
Variant:p.T177M

ASB4

35 papers

RefSeq Summary

The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to co...

Pfam Domains

Ank_2aa 66–137UCSCAnkyrin repeats (3 copies)
Ank_2aa 144–249UCSCAnkyrin repeats (3 copies)
SOCS_boxaa 380–418UCSCSOCS box

Gene Aliases

HGNC Name

ankyrin repeat and SOCS box containing 4

HGNC Alias Symbol

ASB-4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016116.3
p.T177M
c.530C>T
Surrounding Variants
1 paper
NM_016116.3
p.A206V
c.617C>T
1 paper
NM_016116.3
p.T210P
c.628A>C
1 paper
NM_016116.3
p.T210delFs
c.629delC
1 paper
NM_016116.3
p.T210I
c.629C>T
2 papers
NM_016116.3
p.L212fs
c.634_635fs
1 paper
NM_016116.3
p.A216T
c.646G>A
2 papers
NM_016116.3
p.R248*
c.742C>T
2 papers
NM_016116.3
p.P255T
c.763C>A
1 paper
NM_016116.3
p.P255S
c.763C>T
1 paper
NM_016116.3
p.G275fs
c.823_824fs
1 paper
NM_016116.3
p.A288T
c.862G>A
1 paper
NM_016116.3
p.Q290H
c.870G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."