Varaico: Literature-Extracted Genetic Variants

GAN

216 papers

RefSeq Summary

This gene encodes a member of the cytoskeletal BTB/kelch (Broad-Complex, Tramtrack and Bric a brac) repeat family. The encoded protein plays a role in neurofilament architecture and is involved in med...

Pfam Domains

BTBaa 20–128UCSCBTB/POZ domain

BACKaa 134–236UCSCBTB And C-terminal Kelch

Kelch_KLHDC2_KLHL20_DRC7aa 270–475UCSCKLHDC2/KLHL20/DRC7 Kelch-repeats domain

Gene Aliases

HGNC Name

gigaxonin

HGNC Alias Symbols

GAN1; KLHL16; GIG

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_022041.4

p.R591L

c.1772G>T

Surrounding Variants

1 paper

NM_022041.4

p.R593C

c.1777C>T

1 paper

NM_022041.4

p.N577Y

c.1729A>T

7 papers

NM_022041.4

p.A576E

c.1727C>A

2 papers

NM_022041.4

p.R574C

c.1720C>T

8 papers

NM_022041.4

p.C570Y

c.1709G>A

1 paper

NM_022041.4

p.T568K

c.1703C>A

3 papers

NM_022041.4

p.R567L

c.1700G>T

7 papers

NM_022041.4

p.P562A

c.1684C>G

1 paper

NM_022041.4

p.T553fs

c.1657_1658fs

11 papers

NM_022041.4

p.R545H

c.1634G>A

3 papers

NM_022041.4

p.R545L

c.1634G>T

14 papers

NM_022041.4

p.R545C

c.1633C>T