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.E1438K

c.4312G>A

Surrounding Variants

1 paper

NM_000264.5

p.C1437C

c.4311C>T

3 papers

NM_000264.5

p.E1438D

c.4314G>T

3 papers

NM_000264.5

p.E1438D

c.4314G>C

1 paper

NM_000264.5

p.E1436K

c.4306G>A

1 paper

NM_000264.5

p.R1440delFs

c.4318_4319delCT

2 papers

NM_000264.5

p.V1435M

c.4303G>A

2 papers

NM_000264.5

p.P1441S

c.4321C>T

1 paper

NM_000264.5

p.P1441L

c.4322C>T

1 paper

NM_000264.5

p.D1434D

c.4302C>T

19 papers

NM_000264.5

p.R1442W

c.4324C>T

NM_001083607.3

p.R1291W

c.3871C>T

1 paper

NM_000264.5

p.R1442_G1443ins4

c.4324_4328ins12

13 papers

NM_000264.5

p.R1442Q

c.4325G>A