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.E3601fs

c.10801_10802fs

Surrounding Variants

3 papers

NM_015120.4

p.N3600_E3601delFs

c.10800_10803del4

1 paper

NM_015120.4

p.V3597fs

c.10789_10790fs

3 papers

NM_015120.4

p.V3597delFs

c.10790_10791delTG

NM_001378454.1

p.V3596delFs

c.10787_10788delTG

4 papers

NM_001378454.1

p.H3594Y

c.10780C>T

4 papers

NM_015120.4

p.R3607W

c.10819C>T

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

7 papers

NM_015120.4

p.R3609*

c.10825C>T

NM_001378454.1

p.R3608*

c.10822C>T

2 papers

NM_001378454.1

p.Q3609delFs

c.10825_10826delCA

1 paper

NM_001378454.1

p.T3591K

c.10772C>A

1 paper

NM_001378454.1

p.T3591fs

c.10771_10772fs