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

6 papers

NM_000264.5

p.N97fs

c.289_290fs

Surrounding Variants

1 paper

NM_000264.5

p.N97H

c.289A>C

1 paper

NM_000264.5

p.L90_K96delFs

c.268_287del20

7 papers

NM_000264.5

p.N97fs

c.289_290fs

11 papers

NM_000264.5

p.N97_C98insFs

c.291_292insA

5 papers

NM_000264.5

p.N97delFs

c.290delT

1 paper

NM_000264.5

p.K96del1

c.286_288delTTT

1 paper

NM_000264.5

p.C98G

c.292T>G

1 paper

NM_000264.5

p.C98fs

c.292_293fs

1 paper

NM_000264.5

p.C98Y

c.293G>A

1 paper

NM_000264.5

p.Q95fs

c.283_284fs

3 papers

NM_000264.5

p.C98*

c.294C>A

3 papers

NM_000264.5

p.K89_K96delFs

c.265_287del23