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

2 papers

NM_001134831.2

p.W1088delFs

c.3263_3264delCC

Surrounding Variants

1 paper

NM_001134831.2

p.W1089*

c.3266G>A

1 paper

NM_001134831.2

p.W1088*

c.3264G>A

1 paper

NM_001134831.2

p.W1089*

c.3267G>A

1 paper

NM_001134831.2

p.W1088*

c.3263G>A

3 papers

NM_001134831.2

p.W1088fs

c.3262_3263fs

1 paper

NM_001134831.2

p.D1087G

c.3260A>G

16 papers

NM_001134831.2

p.E1086G

c.3257A>G

1 paper

NM_001134831.2

p.V1080L

c.3238G>T

1 paper

NM_001134831.2

p.V1080L

c.3238G>C

1 paper

NM_001134831.2

p.I1077_R1079insFs

c.3229_3235dup7

1 paper

NM_001134831.2

p.R1079*

c.3235C>T

1 paper

NM_001134831.2

p.R1079fs

c.3235_3236fs