Varaico: Literature-Extracted Genetic Variants

ALMS1

603 papers

RefSeq Summary

This gene encodes a protein containing a large tandem-repeat domain as well as additional low complexity regions. The encoded protein functions in microtubule organization, particularly in the formati...

Pfam Domains

ALMS_repeataa 539–585UCSCAlstrom syndrome repeat

ALMS_repeataa 586–632UCSCAlstrom syndrome repeat

ALMS_repeataa 633–679UCSCAlstrom syndrome repeat

ALMS_repeataa 680–726UCSCAlstrom syndrome repeat

ALMS_repeataa 727–774UCSCAlstrom syndrome repeat

ALMS_repeataa 775–821UCSCAlstrom syndrome repeat

Gene Aliases

HGNC Name

ALMS1 centrosome and basal body associated protein

HGNC Alias Symbol

KIAA0328

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015120.4

p.S1074delFs

c.3220_3221delAG

Surrounding Variants

1 paper

NM_001378454.1

p.L1074delFs

c.3221_3222delTG

2 papers

NM_015120.4

p.L1075fs

c.3223_3224fs

NM_001378454.1

p.L1074fs

c.3220_3221fs

2 papers

NM_015120.4

p.K1076_S1078delFs

c.3226_3232del7

2 papers

NM_015120.4

p.K1076fs

c.3226_3227fs

3 papers

NM_015120.4

p.A1084_Q1086delFs

c.3251_3258del8

8 papers

NM_001378454.1

p.G1081G

c.3243A>G

1 paper

NM_001378454.1

p.P1061S

c.3181C>T

3 papers

NM_015120.4

p.A1084fs

c.3250_3251fs

1 paper

NM_001378454.1

p.L1059insFs

c.3176_3177insA

1 paper

NM_001378454.1

p.M1086_V1092del7

c.3256_3275del21

1 paper

NM_001378454.1

p.K1055insFs

c.3163dupA

1 paper

NM_001378454.1

p.T1089insFs

c.3266_3267dupCA