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

1–12 of 54 variants

7 papers

NM_015681.6

p.S51P

c.151T>C

5 papers

NM_015681.6

p.R114Q

c.341G>A

4 papers

NM_015681.6

p.R114Splc

c.341+2T>C

4 papers

NM_015681.6

p.R114Q

c.341G>A

4 papers

NM_015681.6

p.L170del1

c.508_509delGAG

3 papers

NM_015681.6

p.Y32C

c.95A>G

3 papers

NM_015681.6

p.R61W

c.181C>T

3 papers

NM_015681.6

p.I70T

c.209T>C

3 papers

NM_015681.6

p.R156W

c.466C>T

3 papers

NM_015681.6

p.R156Q

c.467G>A

3 papers

NM_015681.6

p.V174del1

c.520_521delCAC

2 papers

NM_015681.6

p.Q58*

c.172C>T