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.L1190*

c.3569T>A

Surrounding Variants

1 paper

NM_000264.5

p.L1190F

c.3570G>T

1 paper

NM_000264.5

p.L1190F

c.3570G>C

1 paper

NM_000264.5

p.G1189G

c.3567C>T

1 paper

NM_000264.5

p.N1191Y

c.3571A>T

2 papers

NM_000264.5

p.L1190delFs

c.3570delC

3 papers

NM_000264.5

p.G1189S

c.3565G>A

2 papers

NM_000264.5

p.R1192C

c.3574C>T

1 paper

NM_000264.5

p.N1188K

c.3564C>G

2 papers

NM_000264.5

p.R1192S

c.3574C>A

1 paper

NM_000264.5

p.N1188K

c.3564C>A

1 paper

NM_000264.5

p.R1192L

c.3575G>T

4 papers

NM_000264.5

p.R1192H

c.3575G>A