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.A1037T

c.3109G>A

Surrounding Variants

1 paper

NM_000264.5

p.A1037insFs

c.3109_3110insAA

2 papers

NM_000264.5

p.L1036delFs

c.3107_3108delCA

1 paper

NM_000264.5

p.A1037V

c.3110C>T

2 papers

NM_000264.5

p.L1036fs

c.3106_3107fs

1 paper

NM_000264.5

p.V1035insFs

c.3104_3105insT

1 paper

NM_000264.5

p.C1038ins3

c.3113_3114ins9

3 papers

NM_000264.5

p.C1038Y

c.3113G>A

1 paper

NM_000264.5

p.C1038W

c.3114C>G

1 paper

NM_000264.5

p.C1038_T1039insFs

c.3114_3115insTT

1 paper

NM_000264.5

p.C1038fs

c.3112_3113fs

1 paper

NM_000264.5

p.V1035L

c.3103G>T

1 paper

NM_000264.5

p.V1035L

c.3103G>C