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.K2279E

c.6835A>G

Surrounding Variants

1 paper

NM_000051.4

p.K2279R

c.6836A>G

1 paper

NM_000051.4

p.Q2280_N2282delFs

c.6840_6844del5

1 paper

NM_000051.4

p.I2278N

c.6833T>A

2 papers

NM_000051.4

p.I2278V

c.6832A>G

2 papers

NM_000051.4

p.Q2280fs

c.6838_6839fs

2 papers

NM_000051.4

p.Q2280*

c.6838C>T

3 papers

NM_000051.4

p.Q2280delFs

c.6839delA

1 paper

NM_000051.4

p.Q2280P

c.6839A>C

1 paper

NM_000051.4

p.Q2277K

c.6829C>A

3 papers

NM_000051.4

p.Q2277*

c.6829C>T

1 paper

NM_000051.4

p.Y2281H

c.6841T>C

1 paper

NM_000051.4

p.Y2281fs

c.6841_6842fs