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.Q412*

c.1234C>T

Surrounding Variants

1 paper

NM_001134831.2

p.Q406delFs

c.1216_1217delTG

2 papers

NM_001134831.2

p.W420*

c.1259G>A

3 papers

NM_001134831.2

p.W420*

c.1260G>A

1 paper

NM_001134831.2

p.P402fs

c.1204_1205fs

2 papers

NM_001134831.2

p.P402delFs

c.1205delG

1 paper

NM_001134831.2

p.P402fs

c.1204_1205fs

1 paper

NM_001134831.2

p.P402S

c.1204C>T

8 papers

NM_001134831.2

p.Q423*

c.1267C>T

1 paper

NM_001134831.2

p.I424F

c.1270A>T

1 paper

NM_001134831.2

p.I424V

c.1270A>G

1 paper

NM_001134831.2

p.Y399delFs

c.1196delT

1 paper

NM_001134831.2

p.Y399C

c.1196A>G