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

1–12 of 22 variants

4 papers

NM_001142733.3

p.L154delFs

c.461_462delAA

3 papers

NM_001142733.3

p.L154fs

c.460_461fs

3 papers

NM_001142733.3

p.P461_S462del2

c.1381_1385del6

1 paper

NM_001142733.3

p.T5N

c.14C>A

1 paper

NM_001142733.3

p.Q22H

c.66G>C

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.A104Splc

c.310+1G>A

1 paper

NM_001142733.3

p.E149*

c.445G>T

1 paper

NM_001142733.3

p.L154fs

c.460_461fs

1 paper

NM_001142733.3

p.R160C

c.478C>T

1 paper

NM_001142733.3

p.G239Splc

c.715+2C>A