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.W1051fs

c.3151_3152fs

Surrounding Variants

2 papers

NM_000264.5

p.P1050delFs

c.3150delG

3 papers

NM_000264.5

p.W1051*

c.3152G>A

1 paper

NM_000264.5

p.W1051fs

c.3151_3152fs

3 papers

NM_000264.5

p.W1051*

c.3153G>A

1 paper

NM_000264.5

p.L1047_W1051delFs

c.3140_3152del13

1 paper

NM_000264.5

p.P1050L

c.3149C>T

2 papers

NM_000264.5

p.F1040_N1049del10

c.3118_3146del30

21 papers

NM_000264.5

p.T1052M

c.3155C>T

3 papers

NM_000264.5

p.N1049I

c.3146A>T

1 paper

NM_000264.5

p.L1048fs

c.3142_3143fs

2 papers

NM_000264.5

p.L1047_L1048delFs

c.3139_3142del4

1 paper

NM_000264.5

p.L1048fs

c.3142_3143fs