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

2 papers

NM_000051.4

p.K2248E

c.6742A>G

Surrounding Variants

2 papers

NM_000051.4

p.I2247M

c.6741T>G

1 paper

NM_000051.4

p.K2248insFs

c.6743dupA

1 paper

NM_000051.4

p.K2248N

c.6744G>C

1 paper

NM_000051.4

p.K2248N

c.6744G>T

2 papers

NM_000051.4

p.I2247L

c.6739A>C

3 papers

NM_000051.4

p.I2247V

c.6739A>G

1 paper

NM_000051.4

p.D2249Y

c.6745G>T

1 paper

NM_000051.4

p.D2249A

c.6746A>C

2 papers

NM_000051.4

p.D2249G

c.6746A>G

1 paper

NM_000051.4

p.D2249E

c.6747C>A

1 paper

NM_000051.4

p.D2249E

c.6747C>G

1 paper

NM_000051.4

p.I2250insFs

c.6750dupT