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.L2840W

c.8519T>G

Surrounding Variants

1 paper

NM_000051.4

p.L2840_P2842delFs

c.8520_8524del5

4 papers

NM_000051.4

p.L2840F

c.8520G>C

4 papers

NM_000051.4

p.L2840F

c.8520G>T

1 paper

NM_000051.4

p.L2840fs

c.8518_8519fs

10 papers

NM_000051.4

p.F2839L

c.8517C>A

9 papers

NM_000051.4

p.F2839L

c.8517C>G

1 paper

NM_000051.4

p.D2841H

c.8521G>C

3 papers

NM_000051.4

p.D2841Y

c.8521G>T

1 paper

NM_000051.4

p.D2841V

c.8522A>T

2 papers

NM_000051.4

p.F2839I

c.8515T>A

9 papers

NM_000051.4

p.F2839L

c.8515T>C

1 paper

NM_000051.4

p.P2842delFs

c.8525delC