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

8 papers

NM_001378454.1

p.S1570_Y1571insCTC

c.4708_4712ins9

Surrounding Variants

1 paper

NM_001378454.1

p.S1570_Y1571insCT

c.4708_4712ins6

1 paper

NM_001378454.1

p.Y1571_F1573del3

c.4711_4718del9

1 paper

NM_001378454.1

p.T1569_S1570insGC

c.4705_4709ins6

1 paper

NM_015120.4

p.T1570_S1571insCTC

c.4708_4712ins9

1 paper

NM_015120.4

p.T1570fs

c.4708_4709fs

1 paper

NM_001378454.1

p.Y1571_S1572insCTC

c.4711_4715ins9

1 paper

NM_015120.4

p.S1573*

c.4718C>A

1 paper

NM_015120.4

p.S1573*

c.4718C>G

1 paper

NM_015120.4

p.S1569Fs

c.4706_4707delinsCTCTFs

1 paper

NM_001378454.1

p.G1574_K1576del3

c.4720_4727del9

1 paper

NM_001378454.1

p.P1577_V1579del3

c.4729_4736del9

1 paper

NM_001378454.1

p.I1578T

c.4733T>C