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

3 papers

NM_000051.4

p.G138R

c.412G>C

Surrounding Variants

3 papers

NM_000051.4

p.G138R

c.412G>A

3 papers

NM_000051.4

p.Y137Y

c.411C>T

1 paper

NM_000051.4

p.G138_C141del4

c.412_422del12

1 paper

NM_000051.4

p.G138E

c.413G>A

4 papers

NM_000051.4

p.Y137F

c.410A>T

1 paper

NM_000051.4

p.G138G

c.414A>T

1 paper

NM_000051.4

p.A139T

c.415G>A

3 papers

NM_000051.4

p.A139P

c.415G>C

1 paper

NM_000051.4

p.Y137H

c.409T>C

1 paper

NM_000051.4

p.Y137D

c.409T>G

1 paper

NM_000051.4

p.Y137fs

c.409_410fs

1 paper

NM_000051.4

p.A139V

c.416C>T