Varaico: Literature-Extracted Genetic Variants

UNC45A

74 papers

RefSeq Summary

This gene encodes a regulatory component of the progesterone receptor/heat shock protein 90 chaperoning complex, which functions in the assembly and folding of the progesterone receptor. The encoded p...

Pfam Domains

TPR_16aa 25–92UCSCTetratricopeptide repeat

TPR_8aa 92–125UCSCTetratricopeptide repeat

UNC45-centralaa 313–530UCSCMyosin-binding striated muscle assembly central

Gene Aliases

HGNC Name

unc-45 myosin chaperone A

HGNC Alias Symbols

SMAP-1; GC-UNC45

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018671.5

p.A519delins

c.1555_1556delinsAA

Surrounding Variants

1 paper

NM_018671.5

p.L524_K525insFs

c.1572_1573insAT

1 paper

NM_018671.5

p.G510A

c.1529G>C

1 paper

NM_018671.5

p.Q529*

c.1585C>T

1 paper

NM_018671.5

p.R531*

c.1591C>T

1 paper

NM_018671.5

p.C503_K504insTT

c.1507_1511ins6

1 paper

NM_001039675.2

p.I524_D525insFs

c.1572_1573insAT

1 paper

NM_001039675.2

p.D525fs

c.1573_1574fs

1 paper

NM_018671.5

p.T543I

c.1628C>T

1 paper

NM_018671.5

p.R545C

c.1633C>T

1 paper

NM_001039675.2

p.F549delFs

c.1646_1647delTT

1 paper

NM_001039675.2

p.F549fs

c.1645_1646fs

1 paper

NM_018671.5

p.E566K

c.1696G>A