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

4 papers

NM_015120.4

p.W267*

c.801G>A

NM_001378454.1

p.W266*

c.798G>A

Surrounding Variants

4 papers

NM_015120.4

p.W267*

c.800G>A

NM_001378454.1

p.W266*

c.797G>A

1 paper

NM_015120.4

p.E266Fs

c.798delinsTTFs

1 paper

NM_015120.4

p.E266delins

c.797_798delinsTT

1 paper

NM_001378454.1

p.R269_P270delFs

c.805_809del5

4 papers

NM_015120.4

p.R270*

c.808C>T

NM_001378454.1

p.R269*

c.805C>T

1 paper

NM_001378454.1

p.D263N

c.787G>A

1 paper

NM_001378454.1

p.E262K

c.784G>A

1 paper

NM_015120.4

p.E273*

c.817G>T

1 paper

NM_001378454.1

p.V273F

c.817G>T

1 paper

NM_001378454.1

p.D259E

c.777T>A

1 paper

NM_001378454.1

p.D259E

c.777T>G

1 paper

NM_001378454.1

p.S274R

c.820A>C