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

3 papers

NM_015681.6

p.Y32C

c.95A>G

Surrounding Variants

1 paper

NM_015681.6

p.K31E

c.91A>G

1 paper

NM_015681.6

p.E24delFs

c.71_72delCT

1 paper

NM_015681.6

p.V17insFs

c.50_51ins5

1 paper

NM_015681.6

p.M1T

c.2T>C

7 papers

NM_015681.6

p.S51P

c.151T>C

2 papers

NM_015681.6

p.Q58*

c.172C>T

3 papers

NM_015681.6

p.R61W

c.181C>T

1 paper

NM_015681.6

p.R61L

c.182G>T

1 paper

NM_015681.6

p.R61insFs

c.183dupG

1 paper

NM_015681.6

p.N67I

c.200A>T

3 papers

NM_015681.6

p.I70T

c.209T>C

1 paper

NM_015681.6

p.D71_V72del2

c.211_215del6