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.K356_D358del0

c.1066_1074del9

Surrounding Variants

1 paper

NM_001134831.2

p.S357_F359delFs

c.1069_1075del7

1 paper

NM_001134831.2

p.D358N

c.1072G>A

1 paper

NM_001134831.2

p.I361L

c.1081A>C

1 paper

NM_001134831.2

p.K356Q

c.1066A>C

1 paper

NM_001134831.2

p.L355R

c.1064T>G

1 paper

NM_001134831.2

p.P364L

c.1091C>T

1 paper

NM_001134831.2

p.P364R

c.1091C>G

1 paper

NM_001134831.2

p.D353G

c.1058A>G

1 paper

NM_001134831.2

p.D353N

c.1057G>A

1 paper

NM_001134831.2

p.P364insFs

c.1092dupA

1 paper

NM_001134831.2

p.T352A

c.1054A>G

5 papers

NM_001134831.2

p.R351L

c.1052G>T