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.K1103fs

c.3307_3308fs

Surrounding Variants

2 papers

NM_015120.4

p.Q1100_R1101delFs

c.3300_3301delAA

NM_001378454.1

p.Q1099_R1100delFs

c.3297_3298delAA

1 paper

NM_015120.4

p.E1114delFs

c.3340delG

1 paper

NM_015120.4

p.E1114fs

c.3340_3341fs

1 paper

NM_001378454.1

p.T1089insFs

c.3266_3267dupCA

1 paper

NM_001378454.1

p.M1086_V1092del7

c.3256_3275del21

3 papers

NM_015120.4

p.A1084fs

c.3250_3251fs

8 papers

NM_001378454.1

p.G1081G

c.3243A>G

3 papers

NM_015120.4

p.A1084_Q1086delFs

c.3251_3258del8

2 papers

NM_015120.4

p.K1076fs

c.3226_3227fs

1 paper

NM_001378454.1

p.L1129L

c.3385C>T

2 papers

NM_015120.4

p.K1076_S1078delFs

c.3226_3232del7

1 paper

NM_001378454.1

p.L1074delFs

c.3221_3222delTG