Varaico: Literature-Extracted Genetic Variants

AHI1

492 papers

RefSeq Summary

This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a rece...

Pfam Domains

WD40aa 644–682UCSCWD domain, G-beta repeat

WD40aa 688–726UCSCWD domain, G-beta repeat

WD40aa 735–772UCSCWD domain, G-beta repeat

WD40aa 846–871UCSCWD domain, G-beta repeat

SH3_1aa 1057–1103UCSCSH3 domain

Gene Aliases

HGNC Name

Abelson helper integration site 1

HGNC Alias Symbols

FLJ20069; ORF1; JBTS3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_001134831.2

p.P810L

c.2429C>T

Surrounding Variants

1 paper

NM_001134831.2

p.H809delFs

c.2426_2427delAT

5 papers

NM_001134831.2

p.N811K

c.2433T>G

5 papers

NM_001134831.2

p.N811K

c.2433T>A

1 paper

NM_001134831.2

p.E807*

c.2419G>T

1 paper

NM_001134831.2

p.E807Q

c.2419G>C

1 paper

NM_001134831.2

p.E807K

c.2419G>A

1 paper

NM_001134831.2

p.L815insFs

c.2444_2445insCT

1 paper

NM_001134831.2

p.S804_Y805delFs

c.2412_2413delAA

1 paper

NM_001134831.2

p.I803delFs

c.2409delT

1 paper

NM_001134831.2

p.L816delFs

c.2447delA

1 paper

NM_001134831.2

p.R814_L815delFs

c.2442_2445del4

1 paper

NM_001134831.2

p.I801_P802delFs

c.2403_2406del4