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.P1387S

c.4159C>T

Surrounding Variants

2 papers

NM_000264.5

p.G1388R

c.4162G>C

2 papers

NM_000264.5

p.G1388R

c.4162G>A

1 paper

NM_000264.5

p.V1386I

c.4156G>A

1 paper

NM_000264.5

p.P1385S

c.4153C>T

1 paper

NM_000264.5

p.P1384L

c.4151C>T

1 paper

NM_000264.5

p.G1390W

c.4168G>T

2 papers

NM_000264.5

p.G1390R

c.4168G>C

2 papers

NM_000264.5

p.G1390R

c.4168G>A

1 paper

NM_000264.5

p.G1390E

c.4169G>A

4 papers

NM_000264.5

p.R1391W

c.4171C>T

1 paper

NM_000264.5

p.R1391R

c.4171C>A

1 paper

NM_000264.5

p.P1383T

c.4147C>A