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

2 papers

NM_018652.5

p.D652Splc

c.1955-4G>A

Surrounding Variants

1 paper

NM_018652.5

p.A668V

c.2003C>T

1 paper

NM_018652.5

p.G648D

c.1943G>A

1 paper

NM_018652.5

p.G648A

c.1943G>C

1 paper

NM_018652.5

p.M690I

c.2070G>A

1 paper

NM_018652.5

p.H617Q

c.1851T>A

2 papers

NM_018652.5

p.H617Q

c.1851T>G

1 paper

NM_018652.5

p.K600_V601Splc

c.1801-8C>G

1 paper

NM_018652.5

p.R582W

c.1744C>T

1 paper

NM_018652.5

p.T545M

c.1634C>T

2 papers

NM_018652.5

p.E510del1

c.1528_1530delGAG

1 paper

NM_018652.5

p.D502G

c.1505A>G

1 paper

NM_018652.5

p.S493N

c.1478G>A