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

56 papers

NM_000051.4

p.R2034*

c.6100C>T

Surrounding Variants

21 papers

NM_000051.4

p.R2034Q

c.6101G>A

2 papers

NM_000051.4

p.R2034P

c.6101G>C

1 paper

NM_000051.4

p.R2034L

c.6101G>T

2 papers

NM_000051.4

p.T2035_H2038delFs

c.6105_6114del10

6 papers

NM_000051.4

p.L2033P

c.6098T>C

1 paper

NM_000051.4

p.L2033insFs

c.6099dupA

3 papers

NM_000051.4

p.T2035A

c.6103A>G

1 paper

NM_000051.4

p.L2033fs

c.6097_6098fs

4 papers

NM_000051.4

p.L2033V

c.6097C>G

2 papers

NM_000051.4

p.L2033fs

c.6097_6098fs

2 papers

NM_000051.4

p.R2032S

c.6096A>T

1 paper

NM_000051.4

p.T2035K

c.6104C>A