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.E421D

c.1263G>C

Surrounding Variants

2 papers

NM_018652.5

p.E421D

c.1263G>T

1 paper

NM_018652.5

p.D411N

c.1231G>A

3 papers

NM_018652.5

p.S433F

c.1298C>T

1 paper

NM_018652.5

p.S433S

c.1299C>T

6 papers

NM_018652.5

p.D439N

c.1315G>A

1 paper

NM_018652.5

p.E444K

c.1330G>A

1 paper

NM_018652.5

p.R396*

c.1186C>T

1 paper

NM_018652.5

p.R368Q

c.1103G>A

2 papers

NM_018652.5

p.V351A

c.1052T>C

1 paper

NM_018652.5

p.V351L

c.1051G>C

1 paper

NM_018652.5

p.V351L

c.1051G>T

1 paper

NM_018652.5

p.Q319Q

c.957A>G