Varaico: Literature-Extracted Genetic Variants

ATM

7,296 papers

RefSeq Summary

The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variet...

Pfam Domains

TANaa 8–112UCSCTelomere-length maintenance and DNA damage repair

TANaa 8–165UCSCTelomere-length maintenance and DNA damage repair

FATaa 2096–2489UCSCFAT domain

PI3_PI4_kinaseaa 2713–2962UCSCPhosphatidylinositol 3- and 4-kinase

FATCaa 3025–3056UCSCFATC domain

Gene Aliases

HGNC Name

ATM serine/threonine kinase

HGNC Previous Symbols

ATA; ATDC; ATC; ATD

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000051.4

p.V2951_A2967delFs

c.8851_8899del49

Surrounding Variants

1 paper

NM_000051.4

p.E2950_V2951Splc

c.8851-3T>G

1 paper

NM_000051.4

p.E2950_V2951Splc

c.8851-1G>A

2 papers

NM_000051.4

p.E2950_V2951Splc

c.8851-1G>C

6 papers

NM_000051.4

p.E2950_V2951Splc

c.8851-1G>T

9 papers

NM_000051.4

p.V2951I

c.8851G>A

2 papers

NM_000051.4

p.V2951L

c.8851G>C

4 papers

NM_000051.4

p.V2951F

c.8851G>T

1 paper

NM_000051.4

p.V2951fs

c.8851_8852fs

1 paper

NM_000051.4

p.V2951D

c.8852T>A

1 paper

NM_000051.4

p.V2951A

c.8852T>C

1 paper

NM_000051.4

p.L2952I

c.8854C>A

6 papers

NM_000051.4

p.L2952V

c.8854C>G