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.V174del1

c.520_521delCAC

Surrounding Variants

2 papers

NM_015681.6

p.D177H

c.529G>C

1 paper

NM_015681.6

p.M178I

c.534G>T

1 paper

NM_015681.6

p.M178I

c.534G>C

1 paper

NM_015681.6

p.M178I

c.534G>A

4 papers

NM_015681.6

p.L170del1

c.508_509delGAG

1 paper

NM_015681.6

p.T168Fs

c.502delinsATFs

1 paper

NM_015681.6

p.T168fs

c.502_503fs

1 paper

NM_015681.6

p.D184delFs

c.551_552delGT

1 paper

NM_015681.6

p.R160C

c.478C>T

1 paper

NM_015681.6

p.P198P

c.594A>C

1 paper

NM_001321214.2

p.C174del1

c.520_522delGCA

1 paper

NM_001321214.2

p.W170del1

c.508_510delCCA