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.T3591fs

c.10771_10772fs

Surrounding Variants

1 paper

NM_001378454.1

p.T3591P

c.10771A>C

10 papers

NM_015120.4

p.T3592delFs

c.10775delC

NM_001378454.1

p.T3591delFs

c.10772delC

3 papers

NM_001378454.1

p.T3591fs

c.10771_10772fs

NM_015120.4

p.T3592fs

c.10774_10775fs

1 paper

NM_001378454.1

p.T3591K

c.10772C>A

4 papers

NM_001378454.1

p.T3592fs

c.10774_10775fs

20 papers

NM_001378454.1

p.T3592delFs

c.10775delC

6 papers

NM_001378454.1

p.T3592fs

c.10774_10775fs

4 papers

NM_001378454.1

p.H3594Y

c.10780C>T

3 papers

NM_015120.4

p.V3597delFs

c.10790_10791delTG

NM_001378454.1

p.V3596delFs

c.10787_10788delTG

1 paper

NM_015120.4

p.V3587fs

c.10759_10760fs

1 paper

NM_015120.4

p.V3597fs

c.10789_10790fs

2 papers

NM_001378454.1

p.K3585M

c.10754A>T