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

3 papers

NM_000264.5

p.L506R

c.1517T>G

Surrounding Variants

1 paper

NM_000264.5

p.L506L

c.1518C>T

1 paper

NM_000264.5

p.V502_F505delFs

c.1506_1515del10

2 papers

NM_000264.5

p.F505_L506delins

c.1515_1518delinsGAGA

1 paper

NM_000264.5

p.F505L

c.1515T>G

1 paper

NM_000264.5

p.F505L

c.1515T>A

1 paper

NM_000264.5

p.A507T

c.1519G>A

3 papers

NM_000264.5

p.A507V

c.1520C>T

1 paper

NM_000264.5

p.A507insFs

c.1519_1520insGT

1 paper

NM_000264.5

p.F505L

c.1513T>C

6 papers

NM_000264.5

p.P504L

c.1511C>T

4 papers

NM_000264.5

p.P504Q

c.1511C>A

NM_001083602.3

p.P438Q

c.1313C>A

NM_001083603.3

p.P503Q

c.1508C>A

NM_001083604.3

p.P353Q

c.1058C>A

1 paper

NM_000264.5

p.P504S

c.1510C>T