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.E650V

c.1949A>T

Surrounding Variants

1 paper

NM_000051.4

p.E650G

c.1949A>G

1 paper

NM_000051.4

p.E650K

c.1948G>A

2 papers

NM_000051.4

p.E650fs

c.1948_1949fs

4 papers

NM_000051.4

p.E650*

c.1948G>T

1 paper

NM_000051.4

p.E650insFs

c.1948dupG

1 paper

NM_000051.4

p.L651I

c.1951C>A

4 papers

NM_000051.4

p.L651P

c.1952T>C

1 paper

NM_000051.4

p.L651insFs

c.1953dupA

4 papers

NM_000051.4

p.L651L

c.1953A>G

4 papers

NM_000051.4

p.E649K

c.1945G>A

3 papers

NM_000051.4

p.E649Q

c.1945G>C

1 paper

NM_000051.4

p.E649_E650insFs

c.1947_1948insA