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.L1401_E1403del3

c.4201_4208del9

Surrounding Variants

1 paper

NM_015120.4

p.L1402insFs

c.4205dupT

1 paper

NM_015120.4

p.T1403fs

c.4207_4208fs

1 paper

NM_015120.4

p.H1401_T1403del3

c.4201_4208del9

1 paper

NM_001378454.1

p.G1398S

c.4192G>A

1 paper

NM_015120.4

p.E1405*

c.4213G>T

1 paper

NM_001378454.1

p.A1405S

c.4213G>T

5 papers

NM_001378454.1

p.Q1394*

c.4180C>T

NM_015120.4

p.Q1395*

c.4183C>T

1 paper

NM_015120.4

p.V1409I

c.4225G>A

1 paper

NM_001378454.1

p.V1408L

c.4222G>C

1 paper

NM_015120.4

p.Q1394*

c.4180C>T

2 papers

NM_001378454.1

p.V1411L

c.4231G>C

1 paper

NM_015120.4

p.P1415_G1416ins4

c.4243_4247ins12