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

2 papers

NM_015120.4

p.S745*

c.2234C>A

Surrounding Variants

2 papers

NM_015120.4

p.S745*

c.2234C>G

4 papers

NM_001378454.1

p.A745G

c.2234C>G

4 papers

NM_001378454.1

p.V743delFs

c.2227delG

3 papers

NM_001378454.1

p.K742_V743insFs

c.2226_2227insA

1 paper

NM_015120.4

p.T742insFs

c.2225_2226insA

1 paper

NM_015120.4

p.T742fs

c.2224_2225fs

1 paper

NM_001378454.1

p.T739Fs

c.2215_2217delinsAAFs

1 paper

NM_015120.4

p.E739Fs

c.2215_2217delinsAAFs

1 paper

NM_015120.4

p.D752Y

c.2254G>T

1 paper

NM_015120.4

p.Q753_K754insFs

c.2259_2260insT

1 paper

NM_001378454.1

p.K753_T754insA

c.2257_2261ins3

1 paper

NM_015120.4

p.K754_T755delFs

c.2262_2263delGA