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.N704fs

c.2110_2111fs

Surrounding Variants

1 paper

NM_000051.4

p.N704H

c.2110A>C

1 paper

NM_000051.4

p.N704T

c.2111A>C

10 papers

NM_000051.4

p.Y705delFs

c.2113delT

1 paper

NM_000051.4

p.N703insFs

c.2108_2109insCC

2 papers

NM_000051.4

p.N703S

c.2108A>G

3 papers

NM_000051.4

p.Y705N

c.2113T>A

1 paper

NM_000051.4

p.Y705H

c.2113T>C

3 papers

NM_000051.4

p.Y705insFs

c.2114_2115insA

3 papers

NM_000051.4

p.Y705fs

c.2113_2114fs

1 paper

NM_000051.4

p.Y705_S706insA

c.2113_2117ins3

1 paper

NM_000051.4

p.Y705insFs

c.2114_2115insT

1 paper

NM_000051.4

p.Y705F

c.2114A>T