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

3 papers

NM_000051.4

p.I598L

c.1792A>C

Surrounding Variants

7 papers

NM_000051.4

p.I598V

c.1792A>G

1 paper

NM_000051.4

p.P597Q

c.1790C>A

4 papers

NM_000051.4

p.P597L

c.1790C>T

1 paper

NM_000051.4

p.L599insFs

c.1795dupC

1 paper

NM_000051.4

p.L599_H600del2

c.1795_1799del6

2 papers

NM_000051.4

p.P597A

c.1789C>G

1 paper

NM_000051.4

p.P597fs

c.1789_1790fs

1 paper

NM_000051.4

p.P596_P597delFs

c.1788_1791del4

1 paper

NM_000051.4

p.H600N

c.1798C>A

1 paper

NM_000051.4

p.P596_P597insG

c.1786_1790ins3

1 paper

NM_000051.4

p.H600D

c.1798C>G

1 paper

NM_000051.4

p.P596S

c.1786C>T