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.G270V

c.809G>T

Surrounding Variants

6 papers

NM_022041.4

p.G270S

c.808G>A

12 papers

NM_022041.4

p.R269Q

c.806G>A

7 papers

NM_022041.4

p.R269W

c.805C>T

1 paper

NM_022041.4

p.S272A

c.814T>G

1 paper

NM_022041.4

p.S272F

c.815C>T

1 paper

NM_022041.4

p.T277A

c.829A>G

1 paper

NM_022041.4

p.G279G

c.837T>C

1 paper

NM_022041.4

p.G280del1

c.838_839delGGA

1 paper

NM_022041.4

p.G280R

c.838G>A

1 paper

NM_022041.4

p.G280R

c.838G>C

3 papers

NM_022041.4

p.E260*

c.778G>T

1 paper

NM_022041.4

p.P256L

c.767C>T