Varaico: Literature-Extracted Genetic Variants

GOLGA6B

38 papers

RefSeq Summary

This gene is found in a large, low copy repeat sequence or duplicon that is found in multiple copies, which are greater than 90% similar, on chromosome 15. Duplicons are associated with deletions, inv...

Pfam Domains

GOLGA2L5aa 217–363UCSCPutative golgin subfamily A member 2-like protein 5

GOLGA2L5aa 467–536UCSCPutative golgin subfamily A member 2-like protein 5

GOLGA2L5aa 531–628UCSCPutative golgin subfamily A member 2-like protein 5

Gene Aliases

HGNC Name

golgin A6 family member B

HGNC Previous Names

golgi autoantigen, golgin subfamily a, 6B; golgin A6 family, member B

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018652.5

p.C177S

c.529T>A

Surrounding Variants

1 paper

NM_018652.5

p.C177S

c.530G>C

1 paper

NM_018652.5

p.E173K

c.517G>A

1 paper

NM_018652.5

p.E153D

c.459A>T

1 paper

NM_018652.5

p.A195V

c.584C>T

1 paper

NM_018652.5

p.R199W

c.595C>T

1 paper

NM_018652.5

p.L201*

c.602T>A

1 paper

NM_018652.5

p.A213T

c.637G>A

1 paper

NM_018652.5

p.A213E

c.638C>A

1 paper

NM_018652.5

p.Q217_V218Splc

c.651+1G>C

2 papers

NM_018652.5

p.K284E

c.850A>G

1 paper

NM_018652.5

p.V293A

c.878T>C

1 paper

NM_018652.5

p.E298G

c.893A>G