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.V1035L

c.3103G>C

Surrounding Variants

1 paper

NM_000264.5

p.V1035L

c.3103G>T

1 paper

NM_000264.5

p.V1034fs

c.3100_3101fs

1 paper

NM_000264.5

p.V1035insFs

c.3104_3105insT

1 paper

NM_000264.5

p.V1034L

c.3100G>T

1 paper

NM_000264.5

p.V1034L

c.3100G>C

1 paper

NM_000264.5

p.V1034M

c.3100G>A

2 papers

NM_000264.5

p.L1036fs

c.3106_3107fs

1 paper

NM_000264.5

p.S1033insFs

c.3098dupG

1 paper

NM_000264.5

p.S1033_V1034insFs

c.3099_3100insA

1 paper

NM_000264.5

p.S1033N

c.3098G>A

1 paper

NM_000264.5

p.A1037insFs

c.3109_3110insAA

1 paper

NM_000264.5

p.A1037T

c.3109G>A