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_001378454.1

p.S3647*

c.10940C>G

Surrounding Variants

1 paper

NM_001378454.1

p.S3647*

c.10940C>A

4 papers

NM_015120.4

p.E3649*

c.10945G>T

1 paper

NM_015120.4

p.V3647fs

c.10939_10940fs

1 paper

NM_015120.4

p.V3647_E3649delFs

c.10939_10945del7

1 paper

NM_001378454.1

p.L3644F

c.10930C>T

11 papers

NM_015120.4

p.R3659*

c.10975C>T

NM_001378454.1

p.R3658*

c.10972C>T

1 paper

NM_015120.4

p.L3633fs

c.10897_10898fs

1 paper

NM_015120.4

p.L3633insFs

c.10898dupT

8 papers

NM_001378454.1

p.L3629F

c.10885C>T

4 papers

NM_001378454.1

p.R3628*

c.10882C>T

NM_015120.4

p.R3629*

c.10885C>T

2 papers

NM_015120.4

p.D3628insFs

c.10883_10884insG

4 papers

NM_001378454.1

p.Q3669*

c.11005C>T