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.S554N

c.1661G>A

Surrounding Variants

3 papers

NM_000264.5

p.S554T

c.1661G>C

4 papers

NM_000264.5

p.S554R

c.1662C>G

4 papers

NM_000264.5

p.S554R

c.1662C>A

1 paper

NM_000264.5

p.S554C

c.1660A>T

5 papers

NM_000264.5

p.S554R

c.1660A>C

1 paper

NM_000264.5

p.N555S

c.1664A>G

1 paper

NM_000264.5

p.N555delins

c.1664delinsGCAGCAG

1 paper

NM_000264.5

p.N555K

c.1665T>G

18 papers

NM_000264.5

p.N555N

c.1665T>C

1 paper

NM_000264.5

p.N555K

c.1665T>A

1 paper

NM_000264.5

p.S552S

c.1656C>T

1 paper

NM_000264.5

p.V556fs

c.1666_1667fs