Varaico: Literature-Extracted Genetic Variants

Gene:ASB1
Variant:p.A45D

ASB1

27 papers

RefSeq Summary

The protein encoded by this gene contains an ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners wit...

Pfam Domains

Ank_2aa 41–141UCSCAnkyrin repeats (3 copies)
Ank_3aa 143–172UCSCAnkyrin repeat
SOCS_boxaa 194–232UCSCSOCS box

Gene Aliases

HGNC Name

ankyrin repeat and SOCS box containing 1

HGNC Alias Symbol

ASB-1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001040445.3
p.A45D
c.134C>A
Surrounding Variants
1 paper
NM_001040445.3
p.E37K
c.109G>A
2 papers
NM_001040445.3
p.P32P
c.96G>A
1 paper
NM_001040445.3
p.R25G
c.73A>G
1 paper
NM_001040445.3
p.W23G
c.67T>G
1 paper
NM_001040445.3
p.R83*
c.247C>T
1 paper
NM_001040445.3
p.D95H
c.283G>C
1 paper
NM_001040445.3
p.Q128K
c.382C>A
1 paper
NM_001040445.3
p.N138N
c.414C>T
2 papers
NM_001040445.3
p.L160M
c.478C>A
1 paper
NM_001040445.3
p.R10W
c.28C>T
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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."