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

1 paper

NM_001134831.2

p.D257A

c.770A>C

Surrounding Variants

1 paper

NM_001134831.2

p.G256_D257delFs

c.766_769del4

1 paper

NM_001134831.2

p.V259A

c.776T>C

2 papers

NM_001134831.2

p.S255F

c.764C>T

1 paper

NM_001134831.2

p.T253_I254insFs

c.759_762dup4

1 paper

NM_001134831.2

p.D257_E260del4

c.769_779del12

1 paper

NM_001134831.2

p.L252F

c.756G>T

2 papers

NM_001134831.2

p.L252F

c.756G>C

1 paper

NM_001134831.2

p.E262fs

c.784_785fs

1 paper

NM_001134831.2

p.E262G

c.785A>G

1 paper

NM_001134831.2

p.E262delFs

c.786delT

8 papers

NM_001134831.2

p.Q263insFs

c.787dupC

1 paper

NM_001134831.2

p.Q263fs

c.787_788fs