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.T778T

c.2334G>T

Surrounding Variants

1 paper

NM_000264.5

p.T778fs

c.2332_2333fs

1 paper

NM_000264.5

p.T768_L777del10

c.2302_2330del30

2 papers

NM_000264.5

p.D779N

c.2335G>A

4 papers

NM_000264.5

p.T778M

c.2333C>T

1 paper

NM_000264.5

p.T778insFs

c.2332dupA

1 paper

NM_000264.5

p.D779fs

c.2335_2336fs

2 papers

NM_000264.5

p.T778P

c.2332A>C

1 paper

NM_000264.5

p.D779_I780insFs

c.2337_2338ins7

1 paper

NM_000264.5

p.I780fs

c.2338_2339fs

1 paper

NM_000264.5

p.V771_I780del10

c.2311_2339del30

1 paper

NM_000264.5

p.L775insFs

c.2324_2325ins8

1 paper

NM_000264.5

p.P782S

c.2344C>T