Varaico: Literature-Extracted Genetic Variants

PTCH1

2,098 papers

RefSeq Summary

This gene encodes a member of the patched family of proteins and a component of the hedgehog signaling pathway. Hedgehog signaling is important in embryonic development and tumorigenesis. The encoded ...

Pfam Domains

TRA2_Naa 147–297UCSCTransformer protein 2 N-terminal domain

Sterol-sensingaa 462–616UCSCSterol-sensing domain of SREBP cleavage-activation

Gene Aliases

HGNC Name

patched 1

HGNC Previous Symbol

NBCCS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000264.5

p.F522fs

c.1564_1565fs

Surrounding Variants

3 papers

NM_000264.5

p.A521V

c.1562C>T

1 paper

NM_000264.5

p.H520fs

c.1558_1559fs

1 paper

NM_000264.5

p.T525S

c.1573A>T

1 paper

NM_000264.5

p.T525A

c.1573A>G

1 paper

NM_000264.5

p.H520delFs

c.1558delG

1 paper

NM_000264.5

p.E524del1

c.1570_1571delTTC

2 papers

NM_000264.5

p.H520Y

c.1558C>T

1 paper

NM_000264.5

p.E524insFs

c.1571dupA

1 paper

NM_000264.5

p.T525delFs

c.1574delG

1 paper

NM_000264.5

p.H520_T525delFs

c.1558_1574del17

1 paper

NM_000264.5

p.D514_A519delFs

c.1540_1555del16

1 paper

NM_000264.5

p.A519_H520ins5

c.1555_1559ins15