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

3 papers

NM_000264.5

p.S1331C

c.3992C>G

Surrounding Variants

3 papers

NM_000264.5

p.S1331F

c.3992C>T

1 paper

NM_000264.5

p.S1331Y

c.3992C>A

1 paper

NM_000264.5

p.H1330_S1331insFs

c.3990_3991insG

1 paper

NM_000264.5

p.G1332D

c.3995G>A

1 paper

NM_000264.5

p.P1333H

c.3998C>A

1 paper

NM_000264.5

p.S1334N

c.4001G>A

1 paper

NM_000264.5

p.E1328K

c.3982G>A

1 paper

NM_000264.5

p.P1333_S1334del2

c.3997_4001del6

3 papers

NM_000264.5

p.S1326fs

c.3976_3977fs

1 paper

NM_000264.5

p.G1329_R1336del8

c.3985_4007del24

1 paper

NM_000264.5

p.I1325F

c.3973A>T

2 papers

NM_000264.5

p.R1338C

c.4012C>T