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.P566Q

c.1697C>A

Surrounding Variants

2 papers

NM_000264.5

p.P566S

c.1696C>T

1 paper

NM_000264.5

p.P566T

c.1696C>A

1 paper

NM_000264.5

p.P568S

c.1702C>T

1 paper

NM_000264.5

p.P568fs

c.1702_1703fs

3 papers

NM_000264.5

p.L564*

c.1691T>G

3 papers

NM_000264.5

p.L564*

c.1691T>A

4 papers

NM_000264.5

p.P568L

c.1703C>T

1 paper

NM_000264.5

p.L564L

c.1690T>C

1 paper

NM_000264.5

p.A563fs

c.1687_1688fs

1 paper

NM_000264.5

p.P568delFs

c.1704delG

1 paper

NM_000264.5

p.P568delFs

c.1702_1703delGG

6 papers

NM_000264.5

p.A563V

c.1688C>T