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.E480*

c.1438G>T

Surrounding Variants

1 paper

NM_022041.4

p.E480A

c.1439A>C

3 papers

NM_022041.4

p.A482V

c.1445C>T

15 papers

NM_022041.4

p.R477*

c.1429C>T

7 papers

NM_022041.4

p.Q483*

c.1447C>T

1 paper

NM_022041.4

p.V476A

c.1427T>C

20 papers

NM_022041.4

p.E486K

c.1456G>A

7 papers

NM_022041.4

p.G474R

c.1420G>A

8 papers

NM_022041.4

p.G474R

c.1420G>C

1 paper

NM_022041.4

p.E486Q

c.1456G>C

4 papers

NM_022041.4

p.T489S

c.1465A>T

4 papers

NM_022041.4

p.T489S

c.1466C>G

1 paper

NM_022041.4

p.M468V

c.1402A>G