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.F752delFs

c.2256delA

Surrounding Variants

2 papers

NM_001134831.2

p.D753V

c.2258A>T

1 paper

NM_001134831.2

p.L750insFs

c.2249_2250insA

1 paper

NM_001134831.2

p.L750R

c.2249T>G

1 paper

NM_001134831.2

p.L750fs

c.2248_2249fs

1 paper

NM_001134831.2

p.G756C

c.2266G>T

1 paper

NM_001134831.2

p.S749_L750insFs

c.2247_2248insA

1 paper

NM_001134831.2

p.N748K

c.2244C>G

1 paper

NM_001134831.2

p.N748K

c.2244C>A

1 paper

NM_001134831.2

p.K744R

c.2231A>G

1 paper

NM_001134831.2

p.D741D

c.2223T>C

13 papers

NM_001134831.2

p.R738*

c.2212C>T

1 paper

NM_001134831.2

p.R738R

c.2212C>A