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.V771_I780del10

c.2311_2339del30

Surrounding Variants

1 paper

NM_000264.5

p.P782S

c.2344C>T

1 paper

NM_000264.5

p.P782L

c.2345C>T

1 paper

NM_000264.5

p.I780fs

c.2338_2339fs

4 papers

NM_000264.5

p.R783W

c.2347C>T

1 paper

NM_000264.5

p.D779_I780insFs

c.2337_2338ins7

2 papers

NM_000264.5

p.E784*

c.2350G>T

1 paper

NM_000264.5

p.E784K

c.2350G>A

2 papers

NM_000264.5

p.D779N

c.2335G>A

1 paper

NM_000264.5

p.D779fs

c.2335_2336fs

1 paper

NM_000264.5

p.T778T

c.2334G>T

1 paper

NM_000264.5

p.T778fs

c.2332_2333fs

1 paper

NM_000264.5

p.T768_L777del10

c.2302_2330del30