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.Q3610_R3611insFs

c.10830_10831insC

Surrounding Variants

1 paper

NM_015120.4

p.R3611insFs

c.10831_10832insC

1 paper

NM_001378454.1

p.R3610fs

c.10828_10829fs

1 paper

NM_015120.4

p.R3611G

c.10831A>G

5 papers

NM_015120.4

p.R3611fs

c.10831_10832fs

NM_001378454.1

p.R3610fs

c.10828_10829fs

10 papers

NM_015120.4

p.Q3610*

c.10828C>T

NM_001378454.1

p.Q3609*

c.10825C>T

6 papers

NM_015120.4

p.R3611delFs

c.10831_10832delAG

NM_001378454.1

p.Q3610_R3611delFs

c.10830_10831delGA

4 papers

NM_001378454.1

p.Q3611delFs

c.10831_10832delCA

2 papers

NM_001378454.1

p.Q3609delFs

c.10825_10826delCA

7 papers

NM_015120.4

p.R3609*

c.10825C>T

NM_001378454.1

p.R3608*

c.10822C>T

4 papers

NM_015120.4

p.R3607W

c.10819C>T

1 paper

NM_015120.4

p.E3617*

c.10849G>T

3 papers

NM_015120.4

p.E3601fs

c.10801_10802fs