Varaico: Literature-Extracted Genetic Variants

ASB14

21 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 a SOCS box domain. The SOCS box serves to ...

Pfam Domains

Ank_2aa 54–148UCSCAnkyrin repeats (3 copies)

Ank_2aa 111–181UCSCAnkyrin repeats (3 copies)

Ank_2aa 131–214UCSCAnkyrin repeats (3 copies)

Ank_2aa 155–248UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

ankyrin repeat and SOCS box containing 14

HGNC Alias Symbol

DKFZp313L0121

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_001142733.3

p.L154delFs

c.461_462delAA

Surrounding Variants

3 papers

NM_001142733.3

p.L154fs

c.460_461fs

1 paper

NM_001142733.3

p.L154fs

c.460_461fs

1 paper

NM_001142733.3

p.E149*

c.445G>T

1 paper

NM_001142733.3

p.A104Splc

c.310+1G>A

1 paper

NM_001142733.3

p.R95S

c.285G>T

1 paper

NM_001142733.3

p.R95S

c.285G>C

1 paper

NM_001142733.3

p.Q22H

c.66G>C

1 paper

NM_001142733.3

p.T5N

c.14C>A

1 paper

NM_001142733.3

p.R160C

c.478C>T

1 paper

NM_001142733.3

p.G239Splc

c.715+2C>A

1 paper

NM_001142733.3

p.A257A

c.771A>C

1 paper

NM_001142733.3

p.G272A

c.815G>C