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.T706_G707delFs

c.2118_2119delTG

Surrounding Variants

1 paper

NM_001378454.1

p.G707R

c.2119G>A

1 paper

NM_001378454.1

p.T710S

c.2128A>T

2 papers

NM_015120.4

p.S714delFs

c.2141_2142delCT

NM_001378454.1

p.S713delFs

c.2138_2139delCT

1 paper

NM_001378454.1

p.G700E

c.2099G>A

1 paper

NM_001378454.1

p.S713del1

c.2137_2139delTCT

1 paper

NM_001378454.1

p.S713F

c.2138C>T

1 paper

NM_001378454.1

p.T714delFs

c.2141delC

3 papers

NM_001378454.1

p.T714delFs

c.2141_2142delCT

5 papers

NM_001378454.1

p.A697D

c.2090C>A

1 paper

NM_001378454.1

p.A697delFs

c.2089delG

5 papers

NM_015120.4

p.S697*

c.2090C>A

NM_001378454.1

p.S696*

c.2087C>A

4 papers

NM_015120.4

p.S697*

c.2090C>G

NM_001378454.1

p.S696*

c.2087C>G