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.K993insFs

c.2978dupA

Surrounding Variants

1 paper

NM_000264.5

p.K993fs

c.2977_2978fs

4 papers

NM_000264.5

p.E992*

c.2974G>T

NM_001083603.3

p.E991*

c.2971G>T

1 paper

NM_000264.5

p.T996I

c.2987C>T

1 paper

NM_000264.5

p.I997V

c.2989A>G

1 paper

NM_000264.5

p.I997T

c.2990T>C

1 paper

NM_000264.5

p.A990T

c.2968G>A

1 paper

NM_000264.5

p.C998fs

c.2992_2993fs

1 paper

NM_000264.5

p.C998fs

c.2992_2993fs

1 paper

NM_000264.5

p.C998*

c.2994C>A

1 paper

NM_000264.5

p.C998delFs

c.2993delC

1 paper

NM_000264.5

p.E989insFs

c.2966_2967ins5

1 paper

NM_000264.5

p.E989*

c.2965G>T