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.E559K

c.1675G>A

Surrounding Variants

1 paper

NM_001378454.1

p.E559delFs

c.1677delA

1 paper

NM_001378454.1

p.P558delFs

c.1674delT

1 paper

NM_001378454.1

p.P558S

c.1672C>T

2 papers

NM_015120.4

p.P559fs

c.1675_1676fs

3 papers

NM_015120.4

p.I558delFs

c.1674delT

1 paper

NM_015120.4

p.A562_D563insFs

c.1686_1687ins8

1 paper

NM_001378454.1

p.A556insFs

c.1667_1668insA

1 paper

NM_015120.4

p.A562_D563ins1

c.1686_1687insCAG

1 paper

NM_015120.4

p.A562_D563insFs

c.1686_1687ins19

1 paper

NM_015120.4

p.D563fs

c.1687_1688fs

1 paper

NM_015120.4

p.D563delFs

c.1688delA

1 paper

NM_015120.4

p.D563fs

c.1687_1688fs