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.I2223fs

c.6667_6668fs

Surrounding Variants

1 paper

NM_000051.4

p.I2223V

c.6667A>G

2 papers

NM_000051.4

p.I2223fs

c.6667_6668fs

1 paper

NM_000051.4

p.I2223N

c.6668T>A

1 paper

NM_000051.4

p.P2222_I2223Fs

c.6666_6668delinsAGFs

1 paper

NM_000051.4

p.P2222H

c.6665C>A

2 papers

NM_000051.4

p.P2222R

c.6665C>G

1 paper

NM_000051.4

p.P2222L

c.6665C>T

1 paper

NM_000051.4

p.P2222delFs

c.6666delT

3 papers

NM_000051.4

p.M2224fs

c.6670_6671fs

5 papers

NM_000051.4

p.M2224insFs

c.6671dupT

1 paper

NM_000051.4

p.M2224L

c.6670A>C

3 papers

NM_000051.4

p.M2224V

c.6670A>G