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

1–12 of 44 variants

6 papers

NM_018652.5

p.D439N

c.1315G>A

3 papers

NM_018652.5

p.S433F

c.1298C>T

2 papers

NM_018652.5

p.K284E

c.850A>G

2 papers

NM_018652.5

p.V351A

c.1052T>C

2 papers

NM_018652.5

p.E421D

c.1263G>C

2 papers

NM_018652.5

p.E421D

c.1263G>T

2 papers

NM_018652.5

p.E510del1

c.1528_1530delGAG

2 papers

NM_018652.5

p.H617Q

c.1851T>G

2 papers

NM_018652.5

p.D652Splc

c.1955-4G>A

1 paper

NM_018652.5

p.E153D

c.459A>T

1 paper

NM_018652.5

p.E173K

c.517G>A

1 paper

NM_018652.5

p.C177S

c.529T>A