Varaico: Literature-Extracted Genetic Variants

ASB7

23 papers

RefSeq Summary

The protein encoded by this gene belongs to a family of ankyrin repeat proteins that, along with four other protein families, contains a C-terminal SOCS box motif. Growing evidence suggests that the S...

Pfam Domains

Ank_2aa 18–112UCSCAnkyrin repeats (3 copies)

Ank_2aa 105–180UCSCAnkyrin repeats (3 copies)

Ank_2aa 184–275UCSCAnkyrin repeats (3 copies)

SOCS_boxaa 274–312UCSCSOCS box

Gene Aliases

HGNC Name

ankyrin repeat and SOCS box containing 7

HGNC Previous Name

ankyrin repeat and SOCS box-containing 7

Papers

RefSeq ID

Protein change

DNA change

1–12 of 23 variants

2 papers

NM_198243.3

p.D116A

c.347A>C

1 paper

NM_198243.3

p.N9H

c.25A>C

1 paper

NM_198243.3

p.L12R

c.35T>G

1 paper

NM_198243.3

p.A20A

c.60C>T

1 paper

NM_198243.3

p.P40L

c.119C>T

1 paper

NM_198243.3

p.R64L

c.191G>T

1 paper

NM_198243.3

p.K76N

c.228A>C

1 paper

NM_198243.3

p.K76N

c.228A>T

1 paper

NM_198243.3

p.G80E

c.239G>A

1 paper

NM_198243.3

p.A88A

c.264A>G

1 paper

NM_198243.3

p.H91R

c.272A>G

1 paper

NM_198243.3

p.R95C

c.283C>T