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.T207A

c.619A>G

Surrounding Variants

1 paper

NM_022041.4

p.K211_V212Splc

c.633+1G>A

4 papers

NM_022041.4

p.K211_V212Splc

c.633+1G>T

1 paper

NM_022041.4

p.K211_V212Splc

c.633+2T>C

8 papers

NM_022041.4

p.R201*

c.601C>T

1 paper

NM_022041.4

p.A198T

c.592G>A

1 paper

NM_022041.4

p.V195A

c.584T>C

5 papers

NM_022041.4

p.V195F

c.583G>T

1 paper

NM_022041.4

p.V189F

c.565G>T

2 papers

NM_022041.4

p.I182N

c.545T>A

1 paper

NM_022041.4

p.E180fs

c.538_539fs

1 paper

NM_022041.4

p.E180fs

c.538_539fs

1 paper

NM_022041.4

p.K179del1

c.535_536delAAA