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.P76_L79delFs

c.227_236del10

Surrounding Variants

1 paper

NM_000264.5

p.L79Q

c.236T>A

2 papers

NM_000264.5

p.L79delFs

c.235delG

4 papers

NM_000264.5

p.R80*

c.238A>T

1 paper

NM_000264.5

p.R80R

c.238A>C

1 paper

NM_000264.5

p.R80fs

c.238_239fs

4 papers

NM_000264.5

p.W78*

c.234G>A

5 papers

NM_000264.5

p.W78*

c.233G>A

1 paper

NM_000264.5

p.A81fs

c.241_242fs

1 paper

NM_000264.5

p.W78_L79ins14

c.232_236ins42

1 paper

NM_000264.5

p.W78insFs

c.232_233insAA

1 paper

NM_000264.5

p.A81G

c.242C>G

1 paper

NM_000264.5

p.A81E

c.242C>A