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.P10fs

c.28_29fs

Surrounding Variants

1 paper

NM_022041.4

p.P10T

c.28C>A

1 paper

NM_022041.4

p.D9E

c.27C>A

1 paper

NM_022041.4

p.D9E

c.27C>G

2 papers

NM_022041.4

p.D9delFs

c.27delC

1 paper

NM_022041.4

p.S8Y

c.23C>A

1 paper

NM_022041.4

p.S8C

c.23C>G

1 paper

NM_022041.4

p.A13_E26del0

c.38_76del39

2 papers

NM_022041.4

p.V7fs

c.19_20fs

1 paper

NM_022041.4

p.V7fs

c.19_20fs

1 paper

NM_022041.4

p.V7_L20del0

c.20_58del39

6 papers

NM_022041.4

p.A6_V7insFs

c.18_19insA

1 paper

NM_022041.4

p.A13G

c.38C>G