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.S1974fs

c.5920_5921fs

Surrounding Variants

2 papers

NM_000051.4

p.R1973R

c.5919A>G

3 papers

NM_000051.4

p.R1973Splc

c.5919-2A>G

2 papers

NM_000051.4

p.L1975I

c.5923C>A

1 paper

NM_000051.4

p.L1975P

c.5924T>C

1 paper

NM_000051.4

p.A1976T

c.5926G>A

1 paper

NM_000051.4

p.A1976P

c.5926G>C

1 paper

NM_000051.4

p.A1976S

c.5926G>T

2 papers

NM_000051.4

p.F1977delFs

c.5931delT

2 papers

NM_000051.4

p.F1977fs

c.5929_5930fs

2 papers

NM_000051.4

p.F1977S

c.5930T>C

2 papers

NM_000051.4

p.E1978K

c.5932G>A

183 papers

NM_000051.4

p.E1978*

c.5932G>T