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

2 papers

NM_000264.5

p.L575insFs

c.1723dupC

Surrounding Variants

1 paper

NM_000264.5

p.S574delFs

c.1721delG

1 paper

NM_000264.5

p.L575fs

c.1723_1724fs

7 papers

NM_000264.5

p.Q576*

c.1726C>T

1 paper

NM_000264.5

p.S574fs

c.1720_1721fs

1 paper

NM_000264.5

p.L575_Q576delins

c.1725_1726delinsTT

1 paper

NM_001083602.3

p.A506_S508delins

c.1516_1524delinsTGAGCTGGAGCTCCG

1 paper

NM_000264.5

p.Q576R

c.1727A>G

1 paper

NM_000264.5

p.L575delFs

c.1725delG

1 paper

NM_000264.5

p.S574Fs

c.1720delinsCCFs

2 papers

NM_000264.5

p.S574T

c.1720T>A

1 paper

NM_000264.5

p.Q576Q

c.1728G>A

1 paper

NM_000264.5

p.S574fs

c.1720_1721fs