Varaico: Literature-Extracted Genetic Variants

B9D1

48 papers

RefSeq Summary

This gene encodes a B9 domain-containing protein, one of several that are involved in ciliogenesis. Alterations in expression of this gene have been found in a family with Meckel syndrome. Meckel synd...

Pfam Domains

B9-C2aa 1–43UCSCCiliary basal body-associated, B9 protein

B9-C2aa 11–168UCSCCiliary basal body-associated, B9 protein

Gene Aliases

HGNC Name

B9 domain containing 1

HGNC Alias Symbols

B9; EPPB9; MKS9; MKSR-1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015681.6

p.Y90C

c.269A>G

Surrounding Variants

2 papers

NM_015681.6

p.V89M

c.265G>A

2 papers

NM_015681.6

p.F95L

c.283T>C

2 papers

NM_015681.6

p.F95L

c.285C>G

2 papers

NM_015681.6

p.F95L

c.285C>A

1 paper

NM_015681.6

p.W82fs

c.244_245fs

1 paper

NM_015681.6

p.R101*

c.301C>T

1 paper

NM_015681.6

p.V108V

c.324G>A

1 paper

NM_015681.6

p.R114L

c.341G>T

5 papers

NM_015681.6

p.R114Q

c.341G>A

4 papers

NM_015681.6

p.R114Splc

c.341+2T>C

1 paper

NM_015681.6

p.R114L

c.341G>T

4 papers

NM_015681.6

p.R114Q

c.341G>A