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

2 papers

NM_000264.5

p.R1419W

c.4255C>T

Surrounding Variants

1 paper

NM_000264.5

p.R1419Q

c.4256G>A

1 paper

NM_000264.5

p.R1419R

c.4257G>A

6 papers

NM_000264.5

p.V1418I

c.4252G>A

1 paper

NM_000264.5

p.F1416_R1419del4

c.4246_4256del12

2 papers

NM_000264.5

p.H1417N

c.4249C>A

1 paper

NM_000264.5

p.V1418_C1420del3

c.4252_4259del9

1 paper

NM_000264.5

p.D1424Y

c.4270G>T

2 papers

NM_000264.5

p.V1414M

c.4240G>A

3 papers

NM_000264.5

p.S1425L

c.4274C>T

2 papers

NM_000264.5

p.P1412L

c.4235C>T

1 paper

NM_000264.5

p.P1412T

c.4234C>A

1 paper

NM_000264.5

p.K1426N

c.4278G>T