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.K418N

c.1254G>T

Surrounding Variants

1 paper

NM_000264.5

p.K418fs

c.1252_1253fs

1 paper

NM_000264.5

p.K418N

c.1254G>C

1 paper

NM_000264.5

p.K418delFs

c.1252_1253delTT

1 paper

NM_000264.5

p.S415_K418del0

c.1245_1253del9

1 paper

NM_000264.5

p.V419M

c.1255G>A

1 paper

NM_000264.5

p.Q417H

c.1251A>T

1 paper

NM_000264.5

p.Q417H

c.1251A>C

1 paper

NM_000264.5

p.L420I

c.1258C>A

1 paper

NM_000264.5

p.Q417insFs

c.1249dupC

1 paper

NM_000264.5

p.Q417delFs

c.1249delG

2 papers

NM_000264.5

p.L420P

c.1259T>C

2 papers

NM_000264.5

p.Q417*

c.1249C>T