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

17 papers

NM_000051.4

p.W412*

c.1235G>A

Surrounding Variants

5 papers

NM_000051.4

p.W412S

c.1235G>C

3 papers

NM_000051.4

p.W412L

c.1235G>T

19 papers

NM_000051.4

p.W412Splc

c.1235+1G>A

6 papers

NM_000051.4

p.W412C

c.1236G>C

6 papers

NM_000051.4

p.W412C

c.1236G>T

6 papers

NM_000051.4

p.W412R

c.1234T>A

6 papers

NM_000051.4

p.W412R

c.1234T>C

1 paper

NM_000051.4

p.W412delFs

c.1235delG

1 paper

NM_000051.4

p.W412Splc

c.1235+2T>C

2 papers

NM_000051.4

p.W412Splc

c.1235+3A>G

1 paper

NM_000051.4

p.W412Splc

c.1235+3A>T

1 paper

NM_000051.4

p.P411insFs

c.1233dupT