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

3 papers

NM_015120.4

p.R1007insFs

c.3019dupA

Surrounding Variants

1 paper

NM_015120.4

p.R1007delFs

c.3019delA

1 paper

NM_001378454.1

p.R1006delFs

c.3016_3017delAG

1 paper

NM_015120.4

p.R1007delFs

c.3020delG

3 papers

NM_015120.4

p.R1007fs

c.3019_3020fs

1 paper

NM_015120.4

p.S1003Y

c.3008C>A

1 paper

NM_015120.4

p.S1011_I1012del2

c.3031_3035del6

1 paper

NM_001378454.1

p.P999R

c.2996C>G

1 paper

NM_015120.4

p.V999fs

c.2995_2996fs

2 papers

NM_015120.4

p.T998_V999delFs

c.2994_2995delAG

1 paper

NM_001378454.1

p.P996delFs

c.2988delA

1 paper

NM_001378454.1

p.P996_T997delFs

c.2988_2989delAA

1 paper

NM_015120.4

p.T996delFs

c.2988delA