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

Selected Variant

1 paper

NM_198243.3

p.K76N

c.228A>C

Surrounding Variants

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

1 paper

NM_198243.3

p.N115S

c.344A>G

2 papers

NM_198243.3

p.D116A

c.347A>C

1 paper

NM_198243.3

p.T151A

c.451A>G

1 paper

NM_198243.3

p.P153Q

c.458C>A

1 paper

NM_198243.3

p.A187T

c.559G>A

1 paper

NM_198243.3

p.Q215*

c.643C>T

1 paper

NM_198243.3

p.G237R

c.709G>A