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.L517P

c.1550T>C

Surrounding Variants

1 paper

NM_000264.5

p.L517fs

c.1549_1550fs

3 papers

NM_000264.5

p.F516del1

c.1546_1548delAAA

1 paper

NM_000264.5

p.F516_L517insFs

c.1548_1549insC

1 paper

NM_000264.5

p.L518M

c.1552C>A

1 paper

NM_000264.5

p.F516insFs

c.1546_1547insC

2 papers

NM_000264.5

p.D514_V515del2

c.1540_1544del6

1 paper

NM_000264.5

p.A519_H520ins5

c.1555_1559ins15

2 papers

NM_000264.5

p.A519P

c.1555G>C

6 papers

NM_000264.5

p.D514del1

c.1540_1542delATC

1 paper

NM_000264.5

p.D514_A519delFs

c.1540_1555del16

2 papers

NM_000264.5

p.H520Y

c.1558C>T

1 paper

NM_000264.5

p.H520delFs

c.1558delG