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.H387Q

c.1161T>G

Surrounding Variants

1 paper

NM_001378454.1

p.D386Y

c.1156G>T

8 papers

NM_001378454.1

p.R392C

c.1174C>T

1 paper

NM_001378454.1

p.K383E

c.1147A>G

1 paper

NM_001378454.1

p.A381_F388ins2

c.1141_1164dup24

1 paper

NM_001378454.1

p.Y394Y

c.1182T>C

1 paper

NM_001378454.1

p.I380T

c.1139T>C

5 papers

NM_015120.4

p.W399_Q401delFs

c.1196_1202del7

NM_001378454.1

p.T399_E401delFs

c.1194_1200del7

1 paper

NM_015120.4

p.W399*

c.1196G>A

1 paper

NM_015120.4

p.W399*

c.1197G>A

2 papers

NM_001378454.1

p.T399fs

c.1195_1196fs

2 papers

NM_001378454.1

p.T376S

c.1127C>G

2 papers

NM_001378454.1

p.T376S

c.1126A>T