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

1 paper

NM_001142733.3

p.Y429*

c.1287C>G

Surrounding Variants

1 paper

NM_001142733.3

p.Y429*

c.1287C>A

1 paper

NM_001142733.3

p.R417T

c.1250G>C

1 paper

NM_001142733.3

p.A410V

c.1229C>T

3 papers

NM_001142733.3

p.P461_S462del2

c.1381_1385del6

1 paper

NM_001142733.3

p.T305fs

c.913_914fs

1 paper

NM_001142733.3

p.H489Y

c.1465C>T

1 paper

NM_001142733.3

p.V494G

c.1481T>G

1 paper

NM_001142733.3

p.R532H

c.1595G>A

1 paper

NM_001142733.3

p.G272A

c.815G>C

1 paper

NM_001142733.3

p.A257A

c.771A>C

1 paper

NM_001142733.3

p.G239Splc

c.715+2C>A

1 paper

NM_001142733.3

p.R160C

c.478C>T