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.L570L

c.1708C>T

Surrounding Variants

1 paper

NM_000264.5

p.A569delFs

c.1707delA

1 paper

NM_000264.5

p.A569delFs

c.1705_1706delGC

1 paper

NM_000264.5

p.A569insFs

c.1705_1706insG

1 paper

NM_001083602.3

p.A503D

c.1508C>A

1 paper

NM_000264.5

p.P568delFs

c.1704delG

1 paper

NM_000264.5

p.P568delFs

c.1702_1703delGG

2 papers

NM_000264.5

p.R571W

c.1711C>T

1 paper

NM_000264.5

p.R571insFs

c.1711_1712insC

2 papers

NM_000264.5

p.R571P

c.1712G>C

1 paper

NM_000264.5

p.R571Q

c.1712G>A

4 papers

NM_000264.5

p.P568L

c.1703C>T

1 paper

NM_000264.5

p.P568S

c.1702C>T