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.L2046delFs

c.6136delC

Surrounding Variants

1 paper

NM_000051.4

p.A2045T

c.6133G>A

1 paper

NM_000051.4

p.K2044N

c.6132A>C

1 paper

NM_000051.4

p.K2044N

c.6132A>T

3 papers

NM_000051.4

p.A2045D

c.6134C>A

2 papers

NM_000051.4

p.A2045V

c.6134C>T

3 papers

NM_000051.4

p.L2046V

c.6136C>G

1 paper

NM_000051.4

p.L2046fs

c.6136_6137fs

1 paper

NM_000051.4

p.V2047_Y2049delFs

c.6139_6146del8

1 paper

NM_000051.4

p.L2046Q

c.6137T>A

1 paper

NM_000051.4

p.G2043A

c.6128G>C

1 paper

NM_000051.4

p.G2043insFs

c.6129dupC

3 papers

NM_000051.4

p.G2043V

c.6128G>T