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.E275*

c.823G>T

Surrounding Variants

1 paper

NM_001378454.1

p.S274R

c.822T>A

1 paper

NM_001378454.1

p.S274R

c.822T>G

1 paper

NM_001378454.1

p.S274R

c.820A>C

1 paper

NM_001378454.1

p.V273F

c.817G>T

1 paper

NM_015120.4

p.E273*

c.817G>T

1 paper

NM_001378454.1

p.Q279*

c.835C>T

1 paper

NM_001378454.1

p.A280V

c.839C>T

4 papers

NM_015120.4

p.R270*

c.808C>T

NM_001378454.1

p.R269*

c.805C>T

1 paper

NM_001378454.1

p.R269_P270delFs

c.805_809del5

1 paper

NM_015120.4

p.A283insFs

c.849dupA

2 papers

NM_001378454.1

p.E283insFs

c.848dupA

1 paper

NM_001378454.1

p.E283fs

c.847_848fs