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.P1279H

c.3836C>A

Surrounding Variants

1 paper

NM_000264.5

p.P1279L

c.3836C>T

1 paper

NM_000264.5

p.P1279S

c.3835C>T

7 papers

NM_000264.5

p.S1280L

c.3839C>T

1 paper

NM_000264.5

p.P1278L

c.3833C>T

1 paper

NM_000264.5

p.P1278S

c.3832C>T

1 paper

NM_000264.5

p.P1282S

c.3844C>T

6 papers

NM_000264.5

p.P1282L

c.3845C>T

1 paper

NM_000264.5

p.P1282Q

c.3845C>A

1 paper

NM_000264.5

p.R1275M

c.3824G>T

4 papers

NM_000264.5

p.Q1284*

c.3850C>T

1 paper

NM_000264.5

p.Q1284H

c.3852G>T

2 papers

NM_000264.5

p.Q1285H

c.3855G>T