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

5 papers

NM_000051.4

p.I2179T

c.6536T>C

Surrounding Variants

7 papers

NM_000051.4

p.I2179M

c.6537T>G

2 papers

NM_000051.4

p.A2178V

c.6533C>T

1 paper

NM_000051.4

p.G2180A

c.6539G>C

4 papers

NM_000051.4

p.G2180V

c.6539G>T

1 paper

NM_000051.4

p.A2178T

c.6532G>A

1 paper

NM_000051.4

p.A2178fs

c.6532_6533fs

1 paper

NM_000051.4

p.E2181*

c.6541G>T

1 paper

NM_000051.4

p.Q2177P

c.6530A>C

8 papers

NM_000051.4

p.Q2177*

c.6529C>T

14 papers

NM_000051.4

p.E2181D

c.6543G>C

16 papers

NM_000051.4

p.E2181D

c.6543G>T

1 paper

NM_000051.4

p.L2182V

c.6544C>G