Varaico: Literature-Extracted Genetic Variants

Gene:ASB4
Variant:p.C307Y

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.C307Y
c.920G>A
Surrounding Variants
1 paper
NM_016116.3
p.I306M
c.918C>G
1 paper
NM_016116.3
p.L311insFs
c.932dupT
1 paper
NM_016116.3
p.A302S
c.904G>T
1 paper
NM_016116.3
p.G315V
c.944G>T
1 paper
NM_016116.3
p.R299C
c.895C>T
1 paper
NM_016116.3
p.R318Q
c.953G>A
1 paper
NM_016116.3
p.Q290H
c.870G>C
1 paper
NM_016116.3
p.Q290H
c.870G>T
1 paper
NM_016116.3
p.A288T
c.862G>A
1 paper
NM_016116.3
p.G275fs
c.823_824fs
2 papers
NM_016116.3
p.P255T
c.763C>A
1 paper
NM_016116.3
p.P255S
c.763C>T
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