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.R1297Q

c.3890G>A

Surrounding Variants

4 papers

NM_000264.5

p.R1297W

c.3889C>T

2 papers

NM_001083603.3

p.Q1297*

c.3889C>T

1 paper

NM_000264.5

p.G1296*

c.3886G>T

1 paper

NM_000264.5

p.G1296R

c.3886G>C

1 paper

NM_000264.5

p.G1296R

c.3886G>A

1 paper

NM_000264.5

p.G1296fs

c.3886_3887fs

1 paper

NM_000264.5

p.G1299S

c.3895G>A

1 paper

NM_000264.5

p.G1296_Q1298delFs

c.3887_3894del8

1 paper

NM_000264.5

p.P1295H

c.3884C>A

3 papers

NM_000264.5

p.P1295S

c.3883C>T

1 paper

NM_000264.5

p.Q1300*

c.3898C>T

1 paper

NM_000264.5

p.Q1300H

c.3900G>T