Varaico: Literature-Extracted Genetic Variants

Gene:ASB4
Variant:p.V113M

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
2 papers
NM_016116.3
p.V113M
c.337G>A
Surrounding Variants
1 paper
NM_016116.3
p.C103S
c.308G>C
1 paper
NM_016116.3
p.C103S
c.307T>A
2 papers
NM_016116.3
p.R129H
c.386G>A
1 paper
NM_016116.3
p.T148T
c.444A>G
1 paper
NM_016116.3
p.W65S
c.194G>C
1 paper
NM_016116.3
p.K34R
c.101A>G
1 paper
NM_016116.3
p.G31_T46del16
c.91_137del48
1 paper
NM_016116.3
p.V17L
c.49G>C
1 paper
NM_016116.3
p.S11fs
c.31_32fs
1 paper
NM_016116.3
p.S11_L16delFs
c.31_46del16
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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."